Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy-Reference-Cited by-同舟云学术

Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy

Published:2017-06-14 Issue:4 Volume:5 Page:410-417
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Garland Jennifer¹²,Stephen Joshi¹,Class Bradley²,Gruber Angela³,Ciccone Carla¹,Poliak Aaron¹,Hayes Christina P.⁴,Singhal Vandana²,Slota Christina²,Perreault John²⁵,Gavrilova Ralitza⁶,Shrader Joseph A.⁷,Chittiboina Prashant⁴,Joe Galen⁷,Heiss John⁴,Gahl William A.¹⁸⁹,Huizing Marjan¹,Carrillo Nuria¹²,Malicdan May Christine V.¹⁸⁹^ORCID

Affiliation:

1. Medical Genetics Branch; National Human Genome Research Institute; National Institutes of Health; Bethesda MD USA

2. Therapeutics for Rare and Neglected Diseases; National Center for Advancing Translational Sciences; National Institutes of Health; Bethesda MD USA

3. Prevention Genetics; Marshfield WI USA

4. Surgical Neurology Branch; National Institute of Neurological Disorders and Stroke; National Institutes of Health; Bethesda MD USA

5. Office of the Clinical Director; National Institute of Child Health and Human Development; National Institutes of Health; Bethesda MD USA

6. Clinical Genomics and Department of Neurology; Mayo Clinic; Rochester MN USA

7. Department of Rehabilitation Medicine; Clinical Center; National Institutes of Health; Bethesda MD USA

8. NIH Undiagnosed Diseases Program; Common Fund; Office of the Director; National Institutes of Health; Bethesda MD USA

9. Office of the Clinical Director; National Human Genome Research Institute; National Institutes of Health; Bethesda MD USA

Funder

National Human Genome Research Institute

National Center for Advancing Translational Sciences

National Institute of Neurological Disorders and Stroke

National Institutes of Health

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

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3. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy;Eisenberg;Nat. Genet.,2001

4. Evidence for dynamic interplay of different oligomeric states of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase by biophysical methods;Ghaderi;J. Mol. Biol.,2007

5. A bifunctional enzyme catalyzes the first two steps in N-acetylneuraminic acid biosynthesis of rat liver. Purification and characterization of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase;Hinderlich;J. Biol. Chem.,1997

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