Novel GNE mutations in autosomal recessive hereditary inclusion body myopathy patients

Genetic Testing and Molecular Biomarkers

Volumn 17, Issue 5, 2013, Pages 376-382

  No, Daniel ^a   Valles Ayoub, Yadira ^a   Carbajo, Rosangela ^a   Khokher, Zeshan ^a   Sandoval, Lucia ^a   Stein, Beth ^b   Tarnopolsky, Mark Andrew ^c   Mozaffar, Tahseen ^d   Darvish, Babak ^a   Pietruszka, Marvin ^a   Darvish, Daniel ^a  

^a HIBM Research Group   (United States)

^b ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^c MCMASTER UNIVERSITY MEDICAL CENTRE   (Canada)

^d UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EPIMERASE;

ADULT; ALLOSTERISM; ARTICLE; BIOSYNTHESIS; CLINICAL ARTICLE; FEMALE; GENE MUTATION; HEREDITARY INCLUSION BODY MYOPATHY; HUMAN; MALE; MUSCLE ATROPHY; MYOPATHY; NONSENSE MUTATION;

ADULT; CODON, NONSENSE; FEMALE; HUMANS; MALE; MULTIENZYME COMPLEXES; MUTATION; MUTATION, MISSENSE; MYOSITIS, INCLUSION BODY; N-ACETYLNEURAMINIC ACID; SEQUENCE ANALYSIS, DNA;

EID: 84876897352     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2012.0408     Document Type: Article

References (17)

1. Adzhubei IA, Schmidt S, Peshkin L, et al. (2010) A method and server for predicting damaging missense mutations. Nat Methods 7:248-249.
2. Argov Z, Yarom R (1984) "Rimmed vacuole myopathy" sparing the quadriceps. A unique disorder in Iranian Jews. J Neurol Sci 64:33-43.
3. Askanas V, Engel WK (2002) Inclusion-body myositis and myopathies: different etiologies, possibly similar pathogenic mechanisms. Curr Opin Neurol 15:525-531.
4. Darvish D (2003) Magnesium may help patients with recessive hereditary inclusion body myopathy, a pathological review. Med Hypotheses 60:94-101.
5. Eisenberg I, Avidan N, Potikha T, et al. (2001) The UDP-N- acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body my-opathy. Nat Genet 29:83-87.
6. Eisenberg I, Grabov-Nardini G, Hochner H, et al. (2003) Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps. Hum Mutat 21:99.
7. Enns GM, Seppala R, Musci TJ, et al. (2001) Clinical course and biochemistry of sialuria. J Inherit Metab Dis 24:328-336.
8. Hinderlich S, Stasche R, Zeitler R, et al. (1997) 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. J Biol Chem 272:24313-24318.
9. Huizing M, Rakocevic G, Sparks SE, et al. (2005) Hypogly-cosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations. Mol Genet Metab 81: 196-202.
10. Kumar P, Henikoff S, Ng PC (2009) Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 4:1073-1081.
11. Leroy J, Seppala R, Huizing M, et al. (2001) Dominant inheritance of sialuria, an inborn error of feedback inhibition. Am J Hum Genet 68:1419-1427.
12. Massa R, Weller B, Karpati G, et al. (1991) Familial inclusion body myositis among Kurdish-Iranian Jews. Arch Neurol 48: 519-522.
13. Needham M, Mastaglia FL, Garlepp MJ (2007) Genetics of inclusion-body myositis. Muscle Nerve 35:549-561.
14. Nishino I, Noguchi S, Murayama K, et al. (2002) Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy. Neurology 59:1689-1693.
15. Saechao C, Valles-Ayoub Y, Esfandiarifard S, et al. (2010) Novel GNE mutations in hederitary inclusion body myopathy patients of non-midle eastern decent. Genet Test Mol Biomarker 14:157-162.
16. Sparks SE, Ciccone C, Lalor M, et al. (2005) Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannoseamine kinase activities in human hereditary inclusion body myopathy. Glycobiology 15:1102-1110.
17. Tseng BP, Kitazawa M, LaFerla FM (2004) Amyloid beta-peptide: the inside story. Curr Alzheimer Res 1:231-239.