Neurologic abnormalities in mouse models of the lysosomal storage disorders mucolipidosis II and mucolipidosis III γ. - Wikidata - wikimedia - TriplyDB

Neurologic abnormalities in mouse models of the lysosomal storage disorders mucolipidosis II and mucolipidosis III γ.

Neurologic abnormalities in mouse models of the lysosomal storage disorders mucolipidosis II and mucolipidosis III γ.

http://www.wikidata.org/entity/Q34338364

about

Knockout of Lysosomal Enzyme-Targeting Gene Causes Abnormalities in Mouse Pup Isolation Calls In Vivo NMR Studies of the Brain with Hereditary or Acquired Metabolic Disorders.Subcellular Trafficking of Mammalian Lysosomal Proteins: An Extended View.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.GPR56/ADGRG1 regulates development and maintenance of peripheral myelin.The KASH-containing isoform of Nesprin1 giant associates with ciliary rootlets of ependymal cells.Hard X-Ray Nanoholotomography: Large-Scale, Label-Free, 3D Neuroimaging beyond Optical Limit.

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Neurologic abnormalities in mouse models of the lysosomal storage disorders mucolipidosis II and mucolipidosis III γ.

http://www.wikidata.org/entity/Q34338364

description

2014 nî lūn-bûn

@nan

2014 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի հոտեմբերին հրատարակված գիտական հոդված

@hy

2014年の論文

@ja

2014年論文

@yue

2014年論文

@zh-hant

2014年論文

@zh-hk

2014年論文

@zh-mo

2014年論文

@zh-tw

2014年论文

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name

Neurologic abnormalities in mo ...... is II and mucolipidosis III γ.

@ast

Neurologic abnormalities in mo ...... is II and mucolipidosis III γ.

@en

Neurologic abnormalities in mo ...... is II and mucolipidosis III γ.

@nl

type

label

Neurologic abnormalities in mo ...... is II and mucolipidosis III γ.

@ast

Neurologic abnormalities in mo ...... is II and mucolipidosis III γ.

@en

Neurologic abnormalities in mo ...... is II and mucolipidosis III γ.

@nl

prefLabel

Neurologic abnormalities in mo ...... is II and mucolipidosis III γ.

@ast

Neurologic abnormalities in mo ...... is II and mucolipidosis III γ.

@en

Neurologic abnormalities in mo ...... is II and mucolipidosis III γ.

@nl

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Neurologic abnormalities in mo ...... is II and mucolipidosis III γ.

@en

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Carla M Yuede

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Daniel S Ory

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David F Wozniak

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Hideji Fujiwara

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Peter Vogel

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Rachel A Idol

http://www.w3.org/2001/XMLSchema#string

Stuart Kornfeld

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P2860

Functions of the alpha, beta, and gamma subunits of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase

Purkinje cell stripes and long-term depression at the parallel fiber-Purkinje cell synapse

Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase

Murine UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase lacking the gamma-subunit retains substantial activity toward acid hydrolases

Comparative pathology of murine mucolipidosis types II and IIIC

Cerebellar defects in a mouse model of juvenile neuronal ceroid lipofuscinosis.

Mice lacking alpha/beta subunits of GlcNAc-1-phosphotransferase exhibit growth retardation, retinal degeneration, and secretory cell lesions.

Multi-system disorders of glycosphingolipid and ganglioside metabolism

Ins and outs of cerebellar modules.

Lysosomal dysfunction causes neurodegeneration in mucolipidosis II 'knock-in' mice.

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