Literature DB >> 7727535

Lysosomal storage diseases.

V Gieselmann1.   

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Year:  1995        PMID： 7727535     DOI： 10.1016/0925-4439(94)00075-2

Source DB:  PubMed          Journal:  Biochim Biophys Acta        ISSN： 0006-3002


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  20 in total

1.  Quality of life of brazilian patients with Gaucher disease and fabry disease.

Authors:  Fabiane Lopes Oliveira; Taciane Alegra; Alicia Dornelles; Bárbara Corrêa Krug; Cristina B O Netto; Neusa Sica da Rocha; Paulo D Picon; Ida Vanessa D Schwartz
Journal:  JIMD Rep       Date:  2012-04-18

2.  The Caenorhabditis elegans mucolipin-like gene cup-5 is essential for viability and regulates lysosomes in multiple cell types.

Authors:  Bradley M Hersh; Erika Hartwieg; H Robert Horvitz
Journal:  Proc Natl Acad Sci U S A       Date:  2002-03-19       Impact factor: 11.205

3.  Synthesis of reference standards to enable single cell metabolomic studies of tetramethylrhodamine-labeled ganglioside GM1.

Authors:  E Andreas Larsson; Ulf Olsson; Colin D Whitmore; Rita Martins; Guido Tettamanti; Ronald L Schnaar; Norman J Dovichi; Monica M Palcic; Ole Hindsgaul
Journal:  Carbohydr Res       Date:  2006-10-07       Impact factor: 2.104

4.  Activation of peroxisome proliferator-activated receptor α induces lysosomal biogenesis in brain cells: implications for lysosomal storage disorders.

Authors:  Arunava Ghosh; Malabendu Jana; Khushbu Modi; Frank J Gonzalez; Katherine B Sims; Elizabeth Berry-Kravis; Kalipada Pahan
Journal:  J Biol Chem       Date:  2015-03-06       Impact factor: 5.157

5.  Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder.

Authors:  D E Sleat; R M Gin; I Sohar; K Wisniewski; S Sklower-Brooks; R K Pullarkat; D N Palmer; T J Lerner; R M Boustany; P Uldall; A N Siakotos; R J Donnelly; P Lobel
Journal:  Am J Hum Genet       Date:  1999-06       Impact factor: 11.025

6.  Targeted disruption of the arylsulfatase B gene results in mice resembling the phenotype of mucopolysaccharidosis VI.

Authors:  M Evers; P Saftig; P Schmidt; A Hafner; D B McLoghlin; W Schmahl; B Hess; K von Figura; C Peters
Journal:  Proc Natl Acad Sci U S A       Date:  1996-08-06       Impact factor: 11.205

7.  Design, Synthesis, and Biological Evaluation of a Series of Oxazolone Carboxamides as a Novel Class of Acid Ceramidase Inhibitors.

Authors:  Samantha Caputo; Simona Di Martino; Vincenzo Cilibrasi; Piero Tardia; Marco Mazzonna; Debora Russo; Ilaria Penna; Maria Summa; Sine Mandrup Bertozzi; Natalia Realini; Natasha Margaroli; Marco Migliore; Giuliana Ottonello; Min Liu; Peter Lansbury; Andrea Armirotti; Rosalia Bertorelli; Soumya S Ray; Renato Skerlj; Rita Scarpelli
Journal:  J Med Chem       Date:  2020-12-08       Impact factor: 7.446

8.  δ-Tocopherol reduces lipid accumulation in Niemann-Pick type C1 and Wolman cholesterol storage disorders.

Authors:  Miao Xu; Ke Liu; Manju Swaroop; Forbes D Porter; Rohini Sidhu; Sally Firnkes; Sally Finkes; Daniel S Ory; Juan J Marugan; Jingbo Xiao; Noel Southall; William J Pavan; Cristin Davidson; Steven U Walkley; Alan T Remaley; Ulrich Baxa; Wei Sun; John C McKew; Christopher P Austin; Wei Zheng
Journal:  J Biol Chem       Date:  2012-10-03       Impact factor: 5.157

9.  Brain lipid composition in grey-lethal mutant mouse characterized by severe malignant osteopetrosis.

Authors:  Alessandro Prinetti; Federica Rocchetta; Elvira Costantino; Annalisa Frattini; Elena Caldana; Francesca Rucci; Arianna Bettiga; Pietro L Poliani; Vanna Chigorno; Sandro Sonnino
Journal:  Glycoconj J       Date:  2008-09-10       Impact factor: 2.916

10.  Selective screening for lysosomal storage diseases with dried blood spots collected on filter paper in 4,700 high-risk colombian subjects.

Authors:  Alfredo Uribe; Roberto Giugliani
Journal:  JIMD Rep       Date:  2013-04-23
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