Literature DB >> 1817024

Biochemical basis of late-onset neurolipidoses.

E Conzelmann1, K Sandhoff.   

Abstract

The occurrence and the tremendous phenotypic variability of late-onset neurolipidosis variants are explained on the basis of a simple kinetic model that describes the correlation between residual activity of a deficient lysosomal enzyme and the degradation rate of its substrate in the lysosome.

Mesh：

Substances：

Year:  1991        PMID： 1817024     DOI： 10.1159/000112160

Source DB:  PubMed          Journal:  Dev Neurosci        ISSN： 0378-5866            Impact factor:   2.984


  14 in total

1.  Mouse model of GM2 activator deficiency manifests cerebellar pathology and motor impairment.

Authors:  Y Liu; A Hoffmann; A Grinberg; H Westphal; M P McDonald; K M Miller; J N Crawley; K Sandhoff; K Suzuki; R L Proia
Journal:  Proc Natl Acad Sci U S A       Date:  1997-07-22       Impact factor: 11.205

2.  Clinical, enzymatic, and molecular characterisation of a Portuguese family with a chronic form of GM2-gangliosidosis B1 variant.

Authors:  M G Ribeiro; T Sonin; R A Pinto; A Fontes; H Ribeiro; E Pinto; M M Palmeira; M C Sá Miranda
Journal:  J Med Genet       Date:  1996-04       Impact factor: 6.318

3.  Plasmid-based gene transfer ameliorates visceral storage in a mouse model of Sandhoff disease.

Authors:  Akira Yamaguchi; Kayoko Katsuyama; Kyoko Suzuki; Kenji Kosaka; Ichiro Aoki; Shoji Yamanaka
Journal:  J Mol Med (Berl)       Date:  2003-02-12       Impact factor: 4.599

Review 4.  Emptying the stores: lysosomal diseases and therapeutic strategies.

Authors:  Frances M Platt
Journal:  Nat Rev Drug Discov       Date:  2017-11-17       Impact factor: 84.694

5.  The increased sensitivity of neurons with elevated glucocerebroside to neurotoxic agents can be reversed by imiglucerase.

Authors:  D Pelled; H Shogomori; A H Futerman
Journal:  J Inherit Metab Dis       Date:  2000-03       Impact factor: 4.982

Review 6.  The glucocerebrosidase locus in Gaucher's disease: molecular analysis of a lysosomal enzyme.

Authors:  P K Mistry; T M Cox
Journal:  J Med Genet       Date:  1993-11       Impact factor: 6.318

7.  Methionine oxidation within the cerebroside-sulfate activator protein (CSAct or Saposin B).

Authors:  J P Whitelegge; B Penn; T To; J Johnson; A Waring; M Sherman; R L Stevens; C B Fluharty; K F Faull; A L Fluharty
Journal:  Protein Sci       Date:  2000-09       Impact factor: 6.725

8.  Three novel mutant arylsulfatase A alleles causing metachromatic leukodystrophy.

Authors:  Afshin Yaghootfam; Nicole Baumann; Andreas Schwarz; Volkmar Gieselmann
Journal:  Neurochem Res       Date:  2004-05       Impact factor: 3.996

9.  Targeted disruption of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs disease.

Authors:  S Yamanaka; M D Johnson; A Grinberg; H Westphal; J N Crawley; M Taniike; K Suzuki; R L Proia
Journal:  Proc Natl Acad Sci U S A       Date:  1994-10-11       Impact factor: 11.205

10.  Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease.

Authors:  R A Anderson; R S Byrum; P M Coates; G N Sando
Journal:  Proc Natl Acad Sci U S A       Date:  1994-03-29       Impact factor: 11.205
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.