A GNPTAB nonsense variant is associated with feline mucolipidosis II (I-cell disease)
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Title
A GNPTAB nonsense variant is associated with feline mucolipidosis II (I-cell disease)
Authors
Keywords
Animal model, Cat, Lysosomal storage disease, N-acetylglucosamine-1-phosphotransferase, Mutation, Neuropathy
Journal
BMC Veterinary Research
Volume 14, Issue 1, Pages -
Publisher
Springer Nature
Online
2018-12-27
DOI
10.1186/s12917-018-1728-1
References
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Note: Only part of the references are listed.- Enzyme-specific differences in mannose phosphorylation between GlcNAc-1-phosphotransferase αβ and γ subunit deficient zebrafish support cathepsin proteases as early mediators of mucolipidosis pathology
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- Altered Chondrocyte Differentiation and Extracellular Matrix Homeostasis in a Zebrafish Model for Mucolipidosis II
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- Molecular analysis of theGNPTABandGNPTGgenes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations
- (2009) M Encarnação et al. CLINICAL GENETICS
- Functions of the α, β, and γ Subunits of UDP-GlcNAc:Lysosomal EnzymeN-Acetylglucosamine-1-phosphotransferase
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- Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands
- (2009) S. S. Cathey et al. JOURNAL OF MEDICAL GENETICS
- Molecular order in mucolipidosis II and III nomenclature
- (2008) Sara S. Cathey et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Molecular analysis of the GlcNac-1-phosphotransferase
- (2008) T. Braulke et al. JOURNAL OF INHERITED METABOLIC DISEASE
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