The role of epigenetics in lysosomal storage disorders: Uncharted territory (Q50056838)

24 February 2018

title

The role of epigenetics in lysosomal storage disorders: Uncharted territory (English)

1 reference

24 February 2018

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Shahzeb Hassan

1

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24 February 2018

Ellen Sidransky

series ordinal

2

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24 February 2018

Nahid Tayebi

series ordinal

3

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24 February 2018

publication date

1 August 2017

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24 February 2018

Molecular Genetics and Metabolism

published in

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24 February 2018

volume

122

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24 February 2018

issue

3

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24 February 2018

page(s)

10-18

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24 February 2018

Redox regulation of genome stability by effects on gene expression, epigenetic pathways and DNA damage/repair.

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Roles of histone acetyltransferases and deacetylases in gene regulation

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Crystal structure of the nucleosome core particle at 2.8 Å resolution

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Basic nuclear processes affected by histone acetyltransferases and histone deacetylase inhibitors.

7 January 2021

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A direct link between core histone acetylation and transcriptionally active chromatin

7 January 2021

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A positive role for histone acetylation in transcription factor access to nucleosomal DNA

7 January 2021

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Crosstalk among Histone Modifications

7 January 2021

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Phosphorylation of H3S10 blocks the access of H3K9 by specific antibodies and histone methyltransferase. Implication in regulating chromatin dynamics and epigenetic inheritance during mitosis

7 January 2021

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Translating the Histone Code

7 January 2021

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The language of covalent histone modifications

7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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The impact of microRNA expression on cellular proliferation

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7 January 2021

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Exportin-5 mediates the nuclear export of pre-microRNAs and short hairpin RNAs

7 January 2021

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A comprehensive analysis of precursor microRNA cleavage by human Dicer

7 January 2021

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Role for a bidentate ribonuclease in the initiation step of RNA interference

7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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Origins and Mechanisms of miRNAs and siRNAs

7 January 2021

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Human Argonaute2 mediates RNA cleavage targeted by miRNAs and siRNAs

7 January 2021

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Biochemical identification of Argonaute 2 as the sole protein required for RNA-induced silencing complex activity

7 January 2021

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5-Azacytidine and 5-aza-2'-deoxycytidine as inhibitors of DNA methylation: mechanistic studies and their implications for cancer therapy

7 January 2021

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Targeting histone methyltransferases and demethylases in clinical trials for cancer therapy

7 January 2021

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The emerging therapeutic potential of histone methyltransferase and demethylase inhibitors

7 January 2021

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MicroRNA fate upon targeting with anti-miRNA oligonucleotides as revealed by an improved Northern-blot-based method for miRNA detection.

7 January 2021

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The cell biology of disease: lysosomal storage disorders: the cellular impact of lysosomal dysfunction

7 January 2021

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Clarifying lysosomal storage diseases

7 January 2021

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Gaucher Disease: Clinical, Biological and Therapeutic Aspects.

7 January 2021

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The biology of the Gaucher cell: the cradle of human chitinases.

7 January 2021

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7 January 2021

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Secondary sphingolipid accumulation in a macrophage model of Gaucher disease.

7 January 2021

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Elevated levels of M-CSF, sCD14 and IL8 in type 1 Gaucher disease

7 January 2021

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A mutation in SCARB2 is a modifier in gaucher disease

7 January 2021

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The role of saposin C in Gaucher disease

7 January 2021

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Molecular characterisation of type 1 Gaucher disease families and patients: intrafamilial heterogeneity at the clinical level

7 January 2021

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Phenotypic heterogeneity in patients with Gaucher disease and the N370S/V394L genotype.

7 January 2021

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Divergent phenotypes in Gaucher disease implicate the role of modifiers

7 January 2021

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Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity

7 January 2021

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A monozygotic twin pair with highly discordant Gaucher phenotypes

7 January 2021

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Twin pairs showing discordance of phenotype in adult Gaucher's disease

7 January 2021

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Glucocerebrosidase mutations in subjects with parkinsonism

7 January 2021

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Genome-wide association study reveals genetic risk underlying Parkinson's disease

7 January 2021

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Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset

7 January 2021

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Parkinson's disease in patients and obligate carriers of Gaucher disease

7 January 2021

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Parkinsonism among Gaucher disease carriers

7 January 2021

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Mutations for Gaucher disease confer high susceptibility to Parkinson disease

7 January 2021

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Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

7 January 2021

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Exploring the link between glucocerebrosidase mutations and parkinsonism

7 January 2021

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Epigenetic regulation in Parkinson's disease

7 January 2021

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7 January 2021

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Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype

7 January 2021

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Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life

7 January 2021

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Fabry disease: the many faces of a single disorder

7 January 2021

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The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels.

7 January 2021

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Intrafamilial phenotypic variability in four families with Anderson-Fabry disease

7 January 2021

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Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene

7 January 2021

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Complex lipid trafficking in Niemann-Pick disease type C.

7 January 2021

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Niemann‐Pick type C disease: molecular mechanisms and potential therapeutic approaches

7 January 2021

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Niemann-Pick disease type C

7 January 2021

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7 January 2021

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Expression of aspartylglucosaminidase in human tissues from normal individuals and aspartylglucosaminuria patients

7 January 2021

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Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene

7 January 2021

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Differences in methylation patterns in the methylation boundary region of IDS gene in Hunter syndrome patients: implications for CpG hot spot mutations

7 January 2021

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Presymptomatic Alterations in Amino Acid Metabolism and DNA Methylation in the Cerebellum of a Murine Model of Niemann-Pick Type C Disease.

7 January 2021

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Novel Gb3 Isoforms Detected in Urine of Fabry Disease Patients: A Metabolomic Study

7 January 2021

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Tandem mass spectrometry multiplex analysis of methylated and non-methylated urinary Gb3 isoforms in Fabry disease patients

7 January 2021

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Aberrant DNA methylation of calcitonin receptor in Fabry patients treated with enzyme replacement therapy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMGME.2017.07.012

Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMGME.2017.07.012

The modulation of inflammatory parameters, Brain-derived neurotrophic factor levels and global histone H4 acetylation status in peripheral blood of patients with Gaucher disease type 1.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMGME.2017.07.012

The Underexploited Role of Non-Coding RNAs in Lysosomal Storage Diseases.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMGME.2017.07.012

A non-conserved miRNA regulates lysosomal function and impacts on a human lysosomal storage disorder.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMGME.2017.07.012

Identification of miRNAs that modulate glucocerebrosidase activity in Gaucher disease cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMGME.2017.07.012

Neuroinflammation and α-synuclein accumulation in response to glucocerebrosidase deficiency are accompanied by synaptic dysfunction

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMGME.2017.07.012

The potential of histone deacetylase inhibitors in Niemann - Pick type C disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMGME.2017.07.012

Histone deacetylase inhibitor treatment dramatically reduces cholesterol accumulation in Niemann-Pick type C1 mutant human fibroblasts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMGME.2017.07.012

An “Exacerbate-reverse” Strategy in Yeast Identifies Histone Deacetylase Inhibition as a Correction for Cholesterol and Sphingolipid Transport Defects in Human Niemann-Pick Type C Disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMGME.2017.07.012

Quantitative comparison of the efficacy of various compounds in lowering intracellular cholesterol levels in Niemann-Pick type C fibroblasts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMGME.2017.07.012

Histone deacetylase inhibitors prevent the degradation and restore the activity of glucocerebrosidase in Gaucher disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMGME.2017.07.012

Histone deacetylase inhibitors increase glucocerebrosidase activity in Gaucher disease by modulation of molecular chaperones

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMGME.2017.07.012

Discrepancies between genotype and phenotype in hematology: an important frontier

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMGME.2017.07.012

Bidirectional links between Alzheimer's disease and Niemann-Pick type C disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMGME.2017.07.012

Loss of Niemann Pick type C proteins 1 and 2 greatly enhances HIV infectivity and is associated with accumulation of HIV Gag and cholesterol in late endosomes/lysosomes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMGME.2017.07.012

Gaucher-Associated Parkinsonism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMGME.2017.07.012

Intrafamilial clinical variability of type 1 Gaucher disease in a French-Canadian family

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMGME.2017.07.012

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/J.YMGME.2017.07.012

1 reference

24 February 2018

1 reference

24 February 2018