Frank T. Martiniuk, PhD

Home 201-***-****, Cell 201-***-****, email acwtr6@r.postjobfree.com

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Wood Ridge, NJ 07075

EDUCATION

University of Vermont, BS, Animal and Plant Science-Zoology, May 1970 Rutgers University, MS, Zoological Sci., June 1973 New York University, Ph.D., February 1982 - Biochemical and genetic studies of two human neutral alpha-glucosidases characterization, demonstration of a genetic polymorphism for neutral alpha-glucosidase C and chromosomal assignment of the genes for neutral alpha- glucosidase AB and C. Sponsors: Dr. J. Mitra, Internal Sponsor, NYU Washington Square, Professor of Biology and Dr. Rochelle Hirschhorn, NYU Med. Center, Dept. of Medicine RESEARCH EXPERIENCE

Presently, I serve as the Vice-President of Research at iProDynamic Therapeutics. Before this position, I had my own independent research laboratory and was the Director of the Molecular Corelab in the CTSI at NYU School of Medicine. I have obtained 23 grants as the PI from NIH and private foundations including grants on gene therapy and serve as a reviewer for many journals and grants. I have been studying GAA and Pompe disease for over thirty-five years. Briefly, we studied the biochemistry and genetics of acid maltase plus established many cell lines available to all investigators. We isolated the first authentic GAA gene and determined the mutations for over 150 patients. Additionally, we estimated the number of affected individuals in the USA by a molecular survey of mutations in the general population. We have been evaluating treatment of Pompe disease by non-viral gene and enzyme replacement therapies. As the former Director of Molecular Core Laboratory in the General Clinical Research Center or Clinical Translational Science Institute (CTSI) from 1992 to May 2013, I was involved in a wide range of clinical and basic research studies including investigations in viral and non-viral gene therapy from design, preparation of reagents, analyses/PK of in vitro and in vivo experiments. Molecular analysis of drug resistant tuberculosis and leprosy. Evaluation of TH17 pathways, plus microRNA regulation of human diseases including Alzheimerʼs diseases, contact sensitivity and cancer. Relationship of SNPs for oligosaccharidases and other genes for obesity and diabetes. Molecular epigenetics of tuberculosis and leprosy using RFLP and next generation sequencing (NGS). Microbiome and microRNA studies of human diseases and conditions. Expertise in cytokine/chemokine and microRNA analysis on Luminex platforms for human diseases. EMPLOYMENT HISTORY:

Clinical research advisor/coordinator for Dr. William Levis and a pharmaceutical company-November 2013 to Dec.-2015.

• Organize and prepare IND/IRB/other documents for a clinical study for the treatment of leprosy.

Research study advisor/consultant-Trixogensis-May 2014 to present.

• Prepare and design pre-clinical animals toxicity studies for various compounds.

Volunteer in the lab. of Kam-Meng Tchou-Wong PhD at the Department of Envirnomental Medicine-NYU School of Medicine, Tuxedo, NY, May 2013 to present.

New York University School of Medicine, Department of Medicine, Pulmonary Division/CTSI, 550 First Avenue, New York, NY 10016 Faculty-Research Associate Professor-1993 to May-2013

• Experience in my own independent laboratory in biochemistry, immunology and molecular biology in the study of the molecular and biochemical basis of human metabolic and infectious diseases.

• Extensive record of publication and receiving over 23 research grants.

• Thorough hands-on and theoretical understanding of all methods listed at end of resume.

Director of Molecular Core Lab. in the General Clinical Research Center/CTSI-1992- 2013.

• Director of the CTSI Molecular Corelab-supervised two staff members and managed

~30 clinical protocols.

• Processed samples, performed various assays and archived samples.

• Trained and taught junior facility members, medical, college and high school students in laboratory techniques and scientific principles. Research Assistant Professor-1983 to 1992.

• Study of the molecular basis of human acid maltase deficiency including development of gene and enzyme replacement therapy.

Post-Doctoral Studies-1982-1983.

• Biochemical and genetic basis of human Pompe and adenosine deaminase diseases. Pre-Doctoral Studies-1976-1982.

• Biochemical and genetic studies of two human neutral alpha-glucosidases characterization, demonstration of a genetic polymorphism for neutral alpha- glucosidase C and chromosomal assignment of the genes for neutral alpha- glucosidase AB and C.

Reviewer for NIH and private foundation grants and numerous journals. ADDITIONAL TRAINING: Molecular biology techniques and the isolation of the gene for human acid maltase in the lab. of Dr. Angel Pellicer, NYU Med. Center, Depart. of Pathology. MEMBERSHIP IN PROFESSIONAL SOCIETIES:

American Society of Human Genetics

American Society of Microbiologists

American Association for the Advancement of Science RESEARCH GRANTS: 23 grants as PI-total = ~$9M direct and ~$3M indirect Muscular Dystrophy Association

Postdoctoral Fellowship-1982-1983

MDA Basic Research Grant

1984-1987

1987-1990

1991-1993

1994-1996

1997-1999

1996-1999

1998-2000

2000-2002

2001-2003

NIH-NIRA 1986-1987

NIH-RO1 1987-1991

NIH-R01 1994-1998

Am. Heart Association

Research Grant

1987-1990

1991-1994

Established. Investigatorship

1991-1996

NY Heart Association

1994-1997

TLH Research, Inc.

1996-1997;1997-1998

The Children's Pompe Foundation

1999

2000

Cystic Fibrosis Association of Greater NY

2004-2005

GCRC 2 M01 RR00096-43 (Robert Grossman MD-PI)

4/1/04-6/30/09 NIH/NCRR

(FM-Director of the Molecular Core Laboratory).

CTSI (Bruce Cronstein MD; Judy Hockman MD-PIs) 7/14/09- 7/13/14 NIH (FM-Director of the Molecular Core Laboratory). Patents

1. 200******** Heat shock proteins from mycobacterium leprae and uses thereof. Inventors: Frank Martiniuk and William Levis; Assignee: NYU School of Medicine. 2. 200******** A1Activator protein of human acid maltase and uses thereof. Inventor: Frank Martiniuk; application.

3. PCT patent-Oral Formulations for Enzyme Replacement Therapy of Human Lysosomal and Metabolic Diseases, Inventors: Frank Martiniuk and Kam-Meng Tchou-Wong; Assignee: NYU School of Medicine; serial #61/846,135, patent submitted, 7-15-14. 4. USA patent-Oral Formulations for Enzyme Replacement Therapy of Human Lysosomal and Metabolic Diseases, Inventors: Frank Martiniuk and Kam-Meng Tchou-Wong; Assignee: NYU School of Medicine; submitted, 2-15-16.

Personal statement as Director of Molecular Core Laboratory in the CTSI and my own laboratory

As Director of the Molecular Core Laboratory of the CTSI, we support ongoing clinical research protocols and to develop molecular approaches to understanding pathophysiology using microarray/microRNA technology. The goal is to develop and provide techniques for investigators to elucidate the molecular pathophysiology of clinical diseases. The Core Laboratory provides molecular biology support, gene therapy development and support for enzyme replacement clinical treatment protocols in the metabolic and inherited diseases. An additional function is the training of clinical research fellows, medical, college and high school students in the laboratory methods of patient-oriented research. The Core Laboratory has been developed with state-of-the-art equipment to support clinical protocols, including microarray/microRNA technology including Luminex platforms. I am well trained in biochemistry, molecular biology, prokaryotic and eukaryotic genetics, microarray/microRNA technology, plus enzyme and gene therapy. Additionally, I meet and advise investigators on experimental design, proper storage of samples, assays, budgeting and publishing data. In my own laboratory, we study the biochemical and molecular genetics of inherited metabolic diseases-primarily acid maltase deficiency, plus developing gene and enzyme replacement therapy. We are currently focusing on the molecular analysis of drug resistant tuberculosis and leprosy, TH17 immuno-pathways, plus microRNA regulation of human diseases including Alzheimerʼs diseases, contact sensitivity and cancer. Additionally, we are studying the relationship of SNPs for oligosaccharidases and other genes for obesity and diabetes. I oversee two staff members in the Core Laboratory and numerous medical, college and high school students who do independent research projects throughout the year in my laboratory. I also lecture in various courses offered through the CTSI and the Pulmonary Division. I have obtained 23 grants as PI over the years from private foundations or NIH plus over 130 publications; chapters or meeting abstracts. I have written INDs and developed pre-clinical testing in animal models for INDs. I serve as a reviewer for many journals and grants. I have the expertise, leadership and motivation necessary to successfully carry out the proposed studies.

RESEARCH INTERESTS AND EXPERIENCE

Early studies and research involved the biochemical and genetic studies of two human neutral alpha glucosidases characterization, demonstration of a genetic polymorphism for neutral alpha glucosidase C and chromosomal assignment of the genes for neutral alpha glucosidase AB and C. (PhD thesis). Later work included the biochemical, genetic and immunologic study of genetic deficiencies for human acid alpha glucosidase (glycogen storage disease type II) and adenosine deaminase (SCID).

More current interests after learning molecular biology techniques in the laboratory of Dr. Angel Pellicer, included the first authentic cloning of the gene for human acid alpha glucosidase, sequencing of the cDNA and analysis of patients for gross abnormalities of RNA and DNA.

Ongoing work includes the analysis of mutations and unusual polymorphic variation at the locus for human acid alpha glucosidase: Extensive genetic heterogeneity of GAA deficient patients was detected by Northern, S1 nuclease protection and/or Southern analysis of patient RNA and DNA. Sequencing of patient DNA has detected specific base pair mutations. Analysis of normal variation in human DNA: Restriction fragment length polymorphisms

(RFLPs) at the locus for acid alpha glucosidase (GAA) were identified and characterized. The RFLPs at the locus have been used in linkage studies and in the construction of a genetic map of chromosome 17.

Analysis of the structural gene, promoter and regulatory function of GAA: Identification of 20 exons in approximately 28 kb and potential promoter region. A construct of a 5' fragment of genomic DNA was ligated to the GAA cDNA coding region. DNA mediated cotransformation with this construct resulted in GAA enzyme expression, indicating that the genomic fragment has promoter function.

Ongoing projects include the cloning of the genes for glucosidase II or neutral alpha glucosidase AB and two other glucosidases (neutral alpha glucosidase C and renal alpha glucosidase). These enzymes along with acid alpha glucosidase may comprise a gene family which have diverged in time.

Additionally, we are now focusing on gene and enzyme replacement therapy for glycogen storage disease type II or acid maltase deficiency. We have developed a recombinant rhGAA and for enzyme replacement therapy. Along with these studies we are focusing on microarray and proteomics to identify genes and proteins that affect the clinical presentation of the disease. We are also investigating telomere length in acid maltase deficiency as a outcome predictor of ERT..

Current interests include the molecular analysis and characterization of drug resistant tuberculosis and the role of genetic factors in resistance to TB. We have isolated the gene for the beta subunit of RNA polymerase from rifampicin resistant Mycobacterium tuberculosis. Other projects involve isolation of drug resistant genes or cell interaction with M. tb. We are also studying the heat shock 65 gene and protein from Mycobacterium leprae and have identified novel RFLPs for the gene that will be used in the molecular epidemiology of leprosy. We are currently determining the genome sequence for the newly discovered and lethal strain of leprosy- M. lepromatosis next generation sequencing (NGS). We are expanding to the TH17 pathway in various diseases, plus microRNA regulation of human diseases including Alzheimerʼs diseases, contact sensitivity and cancer. We are also studying the relationship of SNPs for oligosaccharidases and other genes in obesity and diabetes. Lastly, we are studying the role of the microbiome in LAM or lymphangioleiomyomatosis and normal lung.

SELECTED BIBLIOGRAPHY

URL to a Complete List of Published Work in MyBibliography: http://www.ncbi.nlm.nih.gov/sites/myncbi/1h5lIVFfr7p5o/bibliograpahy/47197718/public/?sort

=date&direction=ascending

Over 140 peer reviewed article, abstracts, book chapters and presentations. Martiniuk F, Mehler M, Tzall, S, Meredith, G and Hirschhorn, R. The cDNA sequence of human acid alpha glucosidase: Detection of an intron in the 5' untranslated leader sequence, definition of 18 base pair polymorphisms and differences with previous cDNA and amino acid sequence. DNA 9:85-94 1990.

Haines JL, Ozelius LJ, McFarlane H, Menon A, Tzall S, Martiniuk F, Hirschhorn R, Breakefield XO, and Gusella JF. A Genetic linkage map of chromosome 17. Genomics 8:1-6. 1990.

Martiniuk F, Mehler M, Tzall S, Meredith G, and Hirschhorn R. Extensive genetic heterogeneity in human acid alpha glucosidase deficiency as detected by abnormalities of DNA and RNA. Am J Hum Genet 47:73-79, 1990.

Martiniuk F, Bodkin M, Tzall S, and Hirschhorn R. Identification of the base pair substitution responsible for a human acid alpha glucosidase allele with lower "affinity" for glycogen (GAA2) and transient gene expression in deficient cells. Amer J Hum Genet 47:440- 445, 1990.

Tzall S, Martiniuk F and Hirschhorn R. Further characterization of Sac I RFLPs at the acid alpha glucosidase (GAA) locus. Nucleic Acids Res 18:1930, 1990. Tzall S, Martiniuk F, Adler A and Hirschhorn R. Identification of an Rsa I RFLP at the acid alpha glucosidase (GAA) locus. Nucleic Acids Res 18:1661, 1990. Tzall S, Martiniuk F, Ozelius L, Gusella J and Hirschhorn R. Further characterization of Pst I RFLPs at the acid alpha glucosidase (GAA) locus. Nucleic Acids Res 19:1727, 1991. Tzall S, Martiniuk F and Hirschhorn R. Identification of a Hind III and a Taq I RFLP at the acid alpha glucosidase (GAA) locus. Nucleic Acids Res 19:1727, 1991. Newgard CB, Norkiewicz B, Hughes S, Martiniuk F and Johnston JM. Developmental expression of messenger RNAs encoding glycogen metabolizing enzymes in rabbit tissues: relationship to fetal lung surfactant production. BBA 1090:333-342, 1991. Tzall S and Martiniuk F. Identification of the promoter region and transient expression for human acid alpha glucosidase in deficient cells. Biohem Biophys Res Comm 176:1509-1515, 1991.

Martiniuk F, Bodkin M, Tzall S and Hirschhorn R. Isolation and partial characterization of the structural gene for human acid alpha glucosidase (GAA). DNA and Cell Biology 10:283-92, 1991.

Zhong N, Martiniuk F, Tzall S and Hirschhorn R. Identification of a missense mutation in Pompe's disease (infantile onset) and PCR amplification of RNA to determine relative expression of mRNA from both alleles. Am J Hum Genetics 49:635-645,1991. Martiniuk F, Hirschhorn R and D'Eustachio P. Linkage of acid alpha-glucosidase (Gaa) and thymidine kinase (Tk-1) to esterase-3 (Es-3) on mouse chromosome 11. Mammalian Genome 1:267-9, 1991.

Martiniuk F, Mehler M, Bodkin M, Tzall S, Hirschhorn K, Zhong N and Hirschhorn R. Identification of the mutation from an adult onset patient with glycogenosis type II expressing only one allele. DNA and Cell Biology 10:681-687, 1991. Cronstein BN, Kimmel SC, Levin RI, Martiniuk F and Weissmann G. Corticosteroids are transcriptional regulators of acute inflammation. Trans Assoc Am Physicians 105:25-35, 1992.

Cronstein BN, Kimmel SC, Levin RI, Martiniuk F and Weissman G. A mechanism for the antiinflammatory effects of corticosteroids: the glucocorticoid receptor regulates leukocyte adhesion to endothelial cells and expression of ELAM-1 and ICAM-1. PNAS 89:9991-9995, 1992.

Martiniuk F and Chen A. Recombinant human acid alpha glucosidase generated In bacteria: antigenic, but enzymatically inactive. DNA and Cell Biology 11:701-706, 1992. Lopez-Ramirez GM, Reibman J, Bonk SJ, Martiniuk F and Rom WN. Intracellular adhesion molecule-1 participates in the early response to Mycobacterium tuberculosis by monocytic cells. World Congress on TB. Abstract, 1992. Marcus D, Martiniuk F and Freidman M. Alzheimer's disease detection by assay of serum glucosidase activity. Abstract- Am Geriatrics Society, 1992. Boerkoel C, Raben N, Martiniuk F, Miller F and Plotz P. Identification of a deletion common to adult and infantile onset acid alpha glucosidase deficiency. Am J Human Genetics 51:A347, 1992.

Cronstein BN, Kimmel SC, Martiniuk F, Levin RI and Weissman G. Corticosteroids (CS) are transcriptional regulators of acute inflammation. Abstract. Clinical Research Meetings, Washington, DC, 1992.

Donnabella V, Martiniuk F, Kinney D, Bacerdo M, Bonk S, Hanna B and Rom WN. Isolation of the gene for the beta subunit of RNA polymerase from rifampicin resistant Mycobacteriuym tuberculosis. Abstract, AFCR meetings, Washington, DC, 1993. Donnabella V, Martiniuk F, Kinney D, Bacerdo M, Bonk S, Hanna B and Rom WN. Isolation of the gene for the beta subunit of RNA polymerase from rifampicin resistant Mycobacteriuym tuberculosis. Am J Respiratory Cell and Mol Biology 11:639-643,1994. Lopez-Ramirez GM, Rom WN, Martiniuk F, Cronstein BN and Riebman J. Mycobacterium tuberculosis enhances expression of ICAM-1 on monocytic cells. Infection and Immunity 62:2515-2520, 1994.

Donnabella V, Law K, Bodkin M, Chen Y, Rom WN and Martiniuk F. Allelic frequency at the natural resistance associated macrophage protein (Nramp) locus from patients at risk for TB. Abstract-AFCR Washington, DC, 1994.

Weiden M, Rom WN, Kreiswirth B, Donnabella V and Martiniuk F. The genetics of multi- drug resistance in Mycobacterium tuberculosis. Abstract AFCR, Washington, DC, 1994. Washington L, Martiniuk F, Rom WN and Galdston M. Nicotine increases expression of the neutrophli elastase gene. Abststract- Am Thoracic Society, Boston, MA, 1994. Armstrong L, Rom WN and Martiniuk F. Characterization of the CD63 gene in hereditary pulmonary fibrosis Hermansky-Pudlak syndrome. Abstract- Am Thoracic Society, Miami, FL, 1995.

Huie M, Hirschhorn R, Chen A, Martiniuk F and Zhong N. Mutation at the catalytic site

(M519V) in glycogen storage disease type II (Pompe disease). Human Mutation 4:291-293, 1994.

Law K, Martiniuk F, Donnabella V, Bonk S, Hanna B, and Rom WN. Rapid detection of drug resistant clinical isolates of Mycobacterium tuberculosis using polymerase chain reaction. Abstract- Am Thoracic Society, Miami, FL, 1995.

Healy P, Nichols PJ, Martiniuk F, Tzall S, Hirschhorn R and Howell JM. Evidence of molecular heterogeneity for generalized glycogenosis between and within breeds of cattle. Australian Vet J 72: 309-311, 1995.

Tsunoda H, Ohshima T, Tohyama J, Martiniuk F, Sasaki M and Sakuragawa N. Acid alpha glucosidase: Identification of a missense mutation (S529V) in a Japanese adult phenotype. Human Genetics 97:496-499, 1996.

Armstrong L, Rom WN, Martiniuk F, Hart D, Jagirdar J and Galdston M. Nicotine increases expression of the neutrophli elastase gene and protein from neutrophil precursors. Am J Respir Crit Care Med 154:1520-24, 1996.

Donnabella V and Martiniuk F. Rifampin in Tuberculosis Rom WN, editor, Little Browm, Boston, MA, 1995.

Raben N, Nichols RC, Martiniuk F and Plotz P. A model of the mRNA splicing in adult lysosomal storage disease (glycogenosis type II). Human Mol Genetics 5:995-1000, 1996. Armstrong L, Rom WN and Martiniuk F. Molecular analysis of the CD63 gene from patients with Hermansky-Pudlak syndrome. Lung 176:249-256,1998. Martiniuk F, Chen A, Mack A, Slonim A and Rom WN. Analysis of 43 patients with glycogen storage disease type II or acid maltase deficiency for fifteen disease specific mutations; prediction of mutations associated with clinical presentation. Abstract- Am Thoracic Society, San Francisco, CA 1997.

Martiniuk F, Chen A, Mack A, Bonk S, Hanna B, Donnabella V and Rom WN. Unusual frequency of mutations in the rpoB gene in rifampin resistant TB at Bellevue Hospital Center. Abstract- Am Thoracic Society, San Francisco, CA, 1997. Martiniuk F, Chen A, Mack A, Bonk A, Hanna B, Donnabella V, Birmingham B and Rom WN. Screening drug resistant TB for mutations at the putative PZA resistant gene pncA at Bellevue Hospital Center. Abstract- Am Thoracic Society, San Francisco, CA, 1997. Martiniuk F, Chen A, Arvanitopoulos E, Mack A, Bonk S, Hanna B, Birmingham B, Donnabella V and Rom WN. Frequency of mutations in the genes responsible for streptomycin resistance in clinical isolates of Mycobacterium tuberculosis at Bellevue. Abstract- Am Thoracic Society, Chicago, IL, 1998.

Martiniuk F, Chen A, Arvanitopoulos E, Donnabella V, Mack A and Rom WN. AFLP Novel DNA fingerprinting and subtyping in strains of Mycobacterium tuberculosis at Bellevue Hospital Center. Abstract- Am Thoracic Society, Chicago, IL, 1998. Martiniuk F, Chen A, Arvanitopoulos E, Mack A, Bonk S, Hanna B, Birmingham B, Donnabella V and Rom WN. Correlation between PZA resistance, PZase activity, and mutations in the putative PZA resistance gene pncA in strains of Mycobacterium tuberculosis at Bellevue. Abstract- Am Thoracic Society, Chicago, IL, 1998. Martiniuk F, Chen A, Mack A, Healy P, Donnabella V, Plotz P, Raben N and Rom WN. Development of novel muscle specific regulatory vectors for gene therapy of acid maltase deficiency. Abstract- Am Thoracic Society, Chicago, IL, 1998. Martiniuk F, Chen A, Mack A, Codd W, Hanna B, Arvanitopoulos E and Rom WN. Determination of the frequency of carriers for glycogen storage disease type II or acid maltase deficiency in New York City and estimates of affected individuals born with the disease. Am J Medical Genetics 79:69-72, 1998.

Slonim AE, Goldberg T, Larsen P, Bulone L, Donnabella V and Martiniuk F. Nutrition, exercise and ephedrine therapy in late onset type 2 glycogenosis (AMD). Abstract, Prospect of treatment of rare diseases. Trieste, Italy 1998.

Martiniuk F. Helios gene gun particle delivery for acid maltase deficiency. Abstract Foundation for the Advancement of the Sciences, NIH, December, 1998. Martiniuk F, Chen A, Mack A, Donnabella V, Arvanitopoulos E and Rom WN Helios gene gun delivery for gene therapy of acid maltase deficiency, Abstract Am Thoracic Society, San Diego, CA, 1999.

Martiniuk F, Chen A, Weiden M, Mack A, Donnabella V and Rom WN Evaluating mutation rates in clinical isolates of TB: mechanisms responsible. Abstract-presentation Am Thoracic Society, San Diego, CA, 1999.

Slonim A, Bulone L, Ritz S, Goldberg T, Chen A and Martiniuk F. Identification of two subtypes of infantile acid maltase deficiency: Evaluation of twenty-two patients and review of the literature. J Pediatrics 137:283-285, 2000.

Martiniuk F. Chen A, Donnabella V, Arvanitopoulos E, Slonim A, Raben N, Plotz P and Rom WN. Correction of glycogen storage disease type II by enzyme replacement with a recombinant human acid maltase produced by over-expression in a CHO DHFRneg cell line. Biochem Biophys Res Comm 276:917-923, 2000.

Martiniuk F, Frame A, Rios-Olivares E, Velasquez N, Donnabella V, Condos R, Arvanitopoulos E, Blatz P, Kramer A, Solá R, Frame K and Rom WN. Plants from Puerto Rico with anti-Mycobacterium tuberculosis properties including MDR straining. Abstract-Am Thoracic Society, San Francisco, CA, 2001.

Martiniuk F, Chen A, Mack A, Donnabella V, Slonim A, Bulone L, Arvanitopoulos E, Raben N, Plotz P and Rom WN. Helios gene gun particle delivery for therapy of acid maltase deficiency. DNA and Cell Biology 21:717-725, 2002. Martiniuk F. Alpha glucosidase deficiency syndromes In: Structural and Molecular Basis of Skeletal Muscle Disease, G. Karpati-volume editor, ISN Neuropath Press, Basel, Switzerland Chapter 8, pp. 134-141, 2002.

Abraham MT, Martiniuk F, Yee H, Levenson M and Kohan D. PCR Identification of mycobacteria in clinical otologic specimens. Otolaryngology Academy Meeting, San Diego, CA, Abstract, 2002.

Martiniuk F. Gene therapy for Pompe's disease. Current Medical Literature's Journal on Lysosomal Storage Disease 29-37, 2002.

Lam CW, Yuen YP, Chan KY, Lai CK, Tong SF, Chan YW and Martiniuk F, Novel missense mutations of the acid alpha-glucosidase gene causing juvenile-onset glycogen storage disease type II. Neurology 60:715-718, 2003. Pipo J, Feng J-H, Yamamto T, Ohsaki Y, Nanba E, Tsujino S, Sakuragawa N, Martiniuk, F, Ninomiya H, Oka A and Ohno K. New mutations in Japanese patients with GSDII (Pompe disease). Pediatric Neurology 29:284-287, 2003.

Ferrara G, Hannah C, Martiniuk F, Hannah B, Rom WN and Condos R. A method to quantify mycobacteria infection of cells from in vitro experiments. Abstract Am Thoracic Society, Seattle, WA, 2003.

Martiniuk F. Liposome mediated gene therapy for treatment of Pompeʼs disease. Oral presentation. Prospect of treatment of rare diseases. Trieste, Italy 2003. Alberti J, Cabrera A, Sanchez M, Levis W and Martiniuk F. Leprosy masquerading as lupus. J Am Acad Derm 52:702-3, 2005.

Tanaka N, Hoshino Y, Gold J, Hoshino S, Martiniuk F, Kurata T, Pine R, Levy D, Rom W and Weiden M. Interleukin-10 induces inhibitory C/EBPβ through STAT-3 and represses HIV-1 transcription in macrophages. Am J Respiratory Cell and Molecular Biology 33:406-411, 2005.

Lu P, Yosipovitch G, Martiniuk F, Cabrera A and Levis W. HIV and leprosy in the Eastern United States. J Infectious Dis 192:1673, 2005. Oppenheimer B, Yee H, Martiniuk F and Goldring R. Alveolar-capillary Membrane structure in a morbidly obese mouse model. Am Thoracic Society, San Diego, CA 2006. Chitkara N, Gregory M, Hoshino Y, Martiniuk, F, Rom W, Tse D, Weiden M and Raju B. T helper type 1 and type 2 cytokines improve control of mycobacterial infection by alveolar macrophages in vitro. Am Thoracic Society, San Diego, CA 2006. Slonim AE, Bulone L, Goldberg T, Minikes J, Slonim E, Galanko J and Martiniuk F, Modification of the natural history of adult-onset acid maltase deficiency by nutrition and exercise therapy. Muscle and Nerve 35:70-77, 2006. Chitkara, N, Gregory, M, Hoshino, Y, Martinuik, F, Rom, W, Tse, D, Weiden, M and Raju, B. T helper type 1 and type 2 cytokines improve control of mycobacterial infection by alveolar macrophages in vitro. Am Thoracic Society, San Diego, CA 2006. Dou W, Gu X, Fu L, Peng C, Zheng J and Martiniuk, F. A novel missense mutation in the acid a-glucosidase gene causing the classic infantile form of Pompe disease. Clin Chim Acta 374:145-146, 2006.

Oppenheimer B, Yee H, Martiniuk F and Goldring R. Alveolar-capillary Membrane structure in a morbidly obese mouse model. Am Thoracic Society, San Diego, CA 2006. Holzer AM, Martiniuk F and Levis WR. Heat-shock proteins as drugs: Potential application in cancer, infections, autoimmune and atopic diseases. J of Drugs in Dermatology 6:393-99, 2007.

Martiniuk F, Tambini M, Rahimian J, Moreira A, Yee H, Hanna B, Rom W and Levis W. Identification of novel Hsp65 RFLPs for Mycobacterium leprae. J of Drugs in Dermatology 6:268-274, 2007.

Martiniuk F, Rao S, Rea T, Glickman M, Giovinazzo J, Rom WN, Cabrera A and Levis WR. Molecular confirmation of leprosy as an immune reconstitution inflammatory syndrome in HIV positive subjects. Emerging Infect Dis-CDC 13:1438-39, 2007. Levis WR, Martiniuk F and Cabrera A. Leprosy in a native-born American from Eastern United States. J Am Acad Derm 57:367-8, 2007. Sajan F, Martiniuk F, Marcus D, Frey II W, Hite R, Bordayo E and Freedman M. Apoptotic gene expression in Alzheimerʼs disease hippocampal tissue. Am J Alzheimerʼs Dis 22:319-328, 2007.

Glodzik-Sobanska L, Pirraglia E, Brys M, de Santi S, Mosconi L, Rich KE, Switalski R, Louis LS, Sadowski MJ, Martiniuk F, Mehta P, Pratico D, Zinkowski RP, Blennow K and de Leon MJ. The effects of normal aging and ApoE genotype on the levels of CSF biomarkers for Alzheimer's disease. Neurobiol Aging Epub ahead of print, 2007, PMID 17920160

Hamilton H, Levis WR, Cabrera A, Martiniuk F and Wolf J. The role of the armadillo and sooty mangabey monkey in human leprosy. Int J Derm 47:545-50, 2008. Fan S, Wu F, Martiniuk F, Hale ML, Ellington AD, Tchou-Wong KM. Protective effects of anti-ricin A-chain RNA aptamer against ricin toxicity.World J Gastroenterol. 14:6360-5, 2008.

Martiniuk F, Lee D, Gaspari A, Yee H, Chiriboga L, Huie M, Tchou-Wong KM and Levis WR. Expression of human CD70 and the TH17-transcription factor RORγT in contact dermatitis. J. Drugs in Dermatology 7:956-960, 2008. Keo T, Martiniuk F, Latkowski J, Cabrera A, Rom W and Levis WR. Molecular origin of leprosy endemic to New York City. Clinical Infectious Disease 46:899-901, 2008. Wolff M, Joseph N, Huie M, QuijanoS, Muakkassa N, Martiniuk F, Perez-Perez G and Francois F. Plasma Levels of Insulinotropic and Digestive Hormones Predict the Risk of Colonic Adenomas. DDW-poster, Chicago, 2009. Wang BY, Shibata R, Zhu H, DeLacure M, Levis W and Martiniuk F. CTLA-4, IL17A/B/C/D/E/F, PLZF, CD27, FoxP3, RORgammaT, and CD70 expression in mucosal melanoma of head and neck. Slide presentation, European Congress of Pathology, Florence, Italy, September, 2009.

Anolik R, Elmariah S, Lehrhoff S, Votava H, Martiniuk F, and Levis W. Hyperimmunoglobulin E syndrome with a novel STAT3 mutation. Dermatology Online Journal 15:16, 2009.

Elbuluk N, Martiniuk F and Levis WR. Erythema nodosum leprosum, Sweetʼs syndrome, and HIV may be related through an overlap in immunopathogenesis. Int J Derm 49:1344-5

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