Ataxia is the major neuropathological finding in arylsulfatase G-deficient mice: similarities and dissimilarities to Sanfilippo disease (mucopolysaccharidosis type III).
about
Sanfilippo syndrome: causes, consequences, and treatmentsLysosomal dysfunction and impaired autophagy in a novel mouse model deficient for the lysosomal membrane protein Cln7A mouse model for fucosidosis recapitulates storage pathology and neurological features of the milder form of the human disease.Arylsulfatase K is the Lysosomal 2-Sulfoglucuronate Sulfatase.A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans.Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions.The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease?Sensorimotor and Neurocognitive Dysfunctions Parallel Early Telencephalic Neuropathology in Fucosidosis Mice.
P2860
Q26773200-1CF3E0BD-0752-4862-AF49-90F4AE732529Q28510746-555CCFE3-8585-4B8D-A21D-97AFD15299FEQ41285403-39B205A1-9412-4655-B882-68AF5A5404F5Q46018872-1F753B65-4C88-492A-97FF-8FB4701A65C2Q47233072-E89B86F3-7D89-4E4B-82B5-3BEB6BD9D597Q47786937-F2EBB714-8834-425E-AB26-6EB8760F0388Q52144841-9EE07022-499C-4464-A231-937A373E4747Q52692069-A2DBC91F-D037-47CA-B3B4-A5E64EDA5FA4
P2860
Ataxia is the major neuropathological finding in arylsulfatase G-deficient mice: similarities and dissimilarities to Sanfilippo disease (mucopolysaccharidosis type III).
description
2014 nî lūn-bûn
@nan
2014 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի դեկտեմբերին 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
@wuu
name
Ataxia is the major neuropatho ...... ucopolysaccharidosis type III)
@nl
Ataxia is the major neuropatho ...... copolysaccharidosis type III).
@ast
Ataxia is the major neuropatho ...... copolysaccharidosis type III).
@en
type
label
Ataxia is the major neuropatho ...... ucopolysaccharidosis type III)
@nl
Ataxia is the major neuropatho ...... copolysaccharidosis type III).
@ast
Ataxia is the major neuropatho ...... copolysaccharidosis type III).
@en
prefLabel
Ataxia is the major neuropatho ...... ucopolysaccharidosis type III)
@nl
Ataxia is the major neuropatho ...... copolysaccharidosis type III).
@ast
Ataxia is the major neuropatho ...... copolysaccharidosis type III).
@en
P2093
P2860
P3181
P356
P1476
Ataxia is the major neuropatho ...... copolysaccharidosis type III).
@en
P2093
Björn Kowalewski
Markus Damme
Peter Heimann
Renate Lüllmann-Rauch
Steven U Walkley
Theresa Ortkras
Thomas Dierks
Tomo Sawada
P2860
P304
P3181
P356
10.1093/HMG/DDU603
P407
P577
2014-12-01T00:00:00Z