Ultrastructural analysis of neuronal and non-neuronal lysosomal storage in mucolipidosis type II knock-in mice.

about

New targets for old diseases: lessons from mucolipidosis type II.Sucrose induces vesicle accumulation and autophagy.

P2860

Q37557178-82DF16B6-95A5-4630-B9FB-5A8937EB1893 Q53393477-AD71568B-6081-4507-939A-50D3DF3AB3D4

P2860

Ultrastructural analysis of neuronal and non-neuronal lysosomal storage in mucolipidosis type II knock-in mice.

Item

http://www.wikidata.org/entity/Q38312470

description

2013 nî lūn-bûn

@nan

2013年の論文

@ja

2013年論文

@yue

2013年論文

@zh-hant

2013年論文

@zh-hk

2013年論文

@zh-mo

2013年論文

@zh-tw

2013年论文

@wuu

2013年论文

@zh

2013年论文

@zh-cn

name

Ultrastructural analysis of ne ...... pidosis type II knock-in mice.

@en

type

Item

label

Ultrastructural analysis of ne ...... pidosis type II knock-in mice.

@en

prefLabel

Ultrastructural analysis of ne ...... pidosis type II knock-in mice.

@en

P1476

Ultrastructural analysis of ne ...... pidosis type II knock-in mice.

@en

P2093

Katrin Kollmann

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

Michaela Schweizer

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

Sandra Markmann

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

Thomas Braulke

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

P2860

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

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

Conditional Niemann-Pick C mice demonstrate cell autonomous Purkinje cell neurodegeneration.

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

Cerebrovascular complications of Fabry's disease.

Sorting of lysosomal proteins.

Mannose phosphorylation in health and disease.

Lysosomal compromise and brain dysfunction: examining the role of neuroaxonal dystrophy.

Vacuolization of mucolipidosis type II mouse exocrine gland cells represents accumulation of autolysosomes.

Deficiency of UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase in organs of I-cell patients.

P304

366-372

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

P31

scholarly article

P356

10.3109/01913123.2013.810687

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

P433

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

P478

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

P577

2013-10-01T00:00:00Z

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

P698

24047352

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

Ultrastructural analysis of neuronal and non-neuronal lysosomal storage in mucolipidosis type II knock-in mice.

about

P2860

P2860

Ultrastructural analysis of neuronal and non-neuronal lysosomal storage in mucolipidosis type II knock-in mice.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698