A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis.
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Sanfilippo syndrome: causes, consequences, and treatmentsDNA testing in neurologic diseasesLarge animal models for Batten disease: a reviewAtaxia is the major neuropathological finding in arylsulfatase G-deficient mice: similarities and dissimilarities to Sanfilippo disease (mucopolysaccharidosis type III).Audiogenic reflex seizures in cats.Classification of Involuntary Movements in Dogs: Myoclonus and MyotoniaLGI2 truncation causes a remitting focal epilepsy in dogs.Identification of a novel idiopathic epilepsy locus in Belgian Shepherd dogs.Franklin H. Epstein Lecture. Both ends of the leash--the human links to good dogs with bad genes.The prevalence of nine genetic disorders in a dog population from Belgium, the Netherlands and Germany.A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis.Arylsulfatase G inactivation causes loss of heparan sulfate 3-O-sulfatase activity and mucopolysaccharidosis in mice.Cerebellar granuloprival degeneration in an Australian kelpie and a Labrador retriever dog.Glycan-based biomarkers for mucopolysaccharidoses.Canine epilepsy genetics.Annotation of the domestic dog genome sequence: finding the missing genes.Canine epilepsy as a translational model?Unmet Needs in Dystonia: Genetics and Molecular Biology-How Many Dystonias?GM2 Gangliosidosis in Shiba Inu Dogs with an In-Frame Deletion in HEXB.Molecular characterization of arylsulfatase G: expression, processing, glycosylation, transport, and activity.Characterization of neuronal ceroid-lipofuscinosis in 3 cats.Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus?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.Late-onset cerebellar abiotrophy in a Labrador Retriever.The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease?Exploring the pathogenesis of canine epilepsy using a systems genetics method and implications for anti-epilepsy drug discovery.Novel rapid genotyping assays for neuronal ceroid lipofuscinosis in Border Collie dogs and high frequency of the mutant allele in Japan.
P2860
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P2860
A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis.
description
2010 nî lūn-bûn
@nan
2010 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
A canine Arylsulfatase G (ARSG ...... euronal ceroid lipofuscinosis.
@ast
A canine Arylsulfatase G (ARSG ...... euronal ceroid lipofuscinosis.
@en
type
label
A canine Arylsulfatase G (ARSG ...... euronal ceroid lipofuscinosis.
@ast
A canine Arylsulfatase G (ARSG ...... euronal ceroid lipofuscinosis.
@en
prefLabel
A canine Arylsulfatase G (ARSG ...... euronal ceroid lipofuscinosis.
@ast
A canine Arylsulfatase G (ARSG ...... euronal ceroid lipofuscinosis.
@en
P2093
P2860
P50
P356
P1476
A canine Arylsulfatase G (ARSG ...... neuronal ceroid lipofuscinosis
@en
P2093
Benoit Hédan
Catherine André
Catherine Caillaud
Christophe Hitte
Delphine Delattre
Florence Bernex
Françoise Delisle
Françoise Gray
Geneviève Aubin-Houzelstein
Jean-Laurent Thibaud
P2860
P304
14775-14780
P356
10.1073/PNAS.0914206107
P407
P577
2010-08-02T00:00:00Z