Mutations, modifiers and epigenetics in Gaucher disease: Blurred boundaries between simple and complex disorders-Reference-Cited by-同舟云学术

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Mutations, modifiers and epigenetics in Gaucher disease: Blurred boundaries between simple and complex disorders

Published:2019-09 Issue:1-2 Volume:128 Page:10-13
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Ryan Emory,Seehra Gurpreet Kaur,Sidransky Ellen

Funder

National Human Genome Research Institute

National Institutes of Health.

NIH Medical Research Scholars Program

NIH

Foundation for the NIH

Doris Duke Charitable Foundation

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference55 articles.

1. Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease;Winfield;Genome Res.,1997

2. The role of epigenetics in lysosomal storage disorders: uncharted territory;Hassan;Mol. Genet. Metab.,2017

3. The complicated relationship between Gaucher disease and parkinsonism: insights from a rare disease;Aflaki;Neuron,2017

4. Gaucher disease: complexity in a “simple” disorder;Sidransky;Mol. Genet. Metab.,2004

5. Gaucher disease: variability in phenotype among siblings;Amato;J. Inherit. Metab. Dis.,2004

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2. Adult type I Gaucher disease with splenectomy caused by a compound heterozygous GBA1 mutation in a Chinese patient: a case report;Annals of Hematology;2024-03-20

3. The lysosomal β-glucocerebrosidase strikes mitochondria: implications for Parkinson’s therapeutics;Brain;2024-03-04

4. MicroRNA Profile, Putative Diagnostic Biomarkers and RNA-Based Therapies in the Inherited Lipid Storage Disease Niemann-Pick Type C;Biomedicines;2023-09-23

5. Revisiting the diagnosis of Gaucher disease in a family with multiple GBA1 variants;American Journal of Medical Genetics Part A;2023-07-14

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