- Home
- Publications
- Publication Search
- Publication Details
Title
Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease
Authors
Keywords
-
Journal
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Volume 111, Issue 13, Pages 4934-4939
Publisher
Proceedings of the National Academy of Sciences
Online
2014-03-18
DOI
10.1073/pnas.1400768111
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia
- (2013) Elodie Martin et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity
- (2013) Monia B. Hammer et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease
- (2013) Yildiz Yildiz et al. Orphanet Journal of Rare Diseases
- Structure-phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia
- (2013) S. Haider et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency
- (2013) M. I. New et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Beta-glucosidase 1 (GBA1) is a second bile acid β-glucosidase in addition to β-glucosidase 2 (GBA2). Study in β-glucosidase deficient mice and humans
- (2012) Klaus Harzer et al. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
- Disease-drug pairs revealed by computational genomic connectivity mapping on GBA1 deficient, Gaucher disease mice
- (2012) Tony Yuen et al. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
- Cell surface associated glycohydrolases in normal and Gaucher disease fibroblasts
- (2012) Massimo Aureli et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Beta-glucosidase 2 knockout mice with increased glucosylceramide show impaired liver regeneration
- (2012) Maria A. Gonzalez-Carmona et al. LIVER INTERNATIONAL
- Vitamin C Prevents Hypogonadal Bone Loss
- (2012) Ling-Ling Zhu et al. PLoS One
- Gaucher disease gene GBA functions in immune regulation
- (2012) J. Liu et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response
- (2011) N. Dekker et al. BLOOD
- Markers of Bone Turnover in Gaucher Disease: Modeling the Evolution of Bone Disease
- (2011) L. van Dussen et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Lysosomal Lipid Storage Diseases
- (2011) H. Schulze et al. Cold Spring Harbor Perspectives in Biology
- Benefits from Unearthing “a Biochemical Rosetta Stone”
- (2010) Roscoe O. Brady JOURNAL OF BIOLOGICAL CHEMISTRY
- Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage
- (2010) P. K. Mistry et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started