Combination of Acid Β-Glucosidase Mutation and Saposin C Deficiency in Mice Reveals Gba1 Mutation Dependent and Tissue-Specific Disease Phenotype

Scientific Reports - United Kingdom
doi 10.1038/s41598-019-41914-7
Full Text
Abstract

Available in full text

Date
Authors
Publisher

Springer Science and Business Media LLC

Related search

Mutation of Β-Glucosidase 2 Causes Glycolipid Storage Disease and Impaired Male Fertility

Journal of Clinical Investigation
Medicine
2006English

Mutation- And Tissue-Specific Alterations ofRPGRTranscripts

Investigative Ophthalmology and Visual Science
Molecular NeuroscienceOphthalmologySensory SystemsCellular
2010English

LMNA E82K Mutation Activates FAS and Mitochondrial Pathways of Apoptosis in Heart Tissue Specific Transgenic Mice

PLoS ONE
Multidisciplinary
2010English

Tissue-Specific Splicing Mutation in Acute Intermittent Porphyria.

Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
1989English

ADA2 Deficiency: Case Report of a New Phenotype and Novel Mutation in Two Sisters

RMD Open
RheumatologyAllergyImmunology
2016English

HOXB1 Founder Mutation in Humans Recapitulates the Phenotype of Hoxb1−/− Mice

American Journal of Human Genetics
Genetics
2012English

PD-1 Deficiency Reveals Various Tissue-Specific Autoimmunity by H-2b and Dose-Dependent Requirement of H-2g7 for Diabetes in NOD Mice

Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
2008English

Phenotype and Prognosis of the Lamin a/C Gene (LMNA) Mutation Carriers in Japan

Circulation Journal
MedicineCardiovascular MedicineCardiology
2018English

TheFBN2gene: New Mutations, Locus-Specific Database (Universal Mutation DatabaseFBN2), and Genotype-Phenotype Correlations

Human Mutation
Genetics
2008English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2024 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy