Search Results - "Revechon, G"
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The Heterochromatin protein 1 is a regulator in RNA splicing precision deficient in ulcerative colitis
Published in Nature communications (18-11-2022)“…Defects in RNA splicing have been linked to human disorders, but remain poorly explored in inflammatory bowel disease (IBD). Here, we report that expression of…”
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Readily Available Tools to Detect Progerin and Cardiac Disease Progression in Hutchinson-Gilford Progeria Syndrome
Published in Circulation (New York, N.Y.) (06-06-2023)Get full text
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3
Challenges of proving a causal role of somatic mutations in the aging process
Published in Aging cell (01-05-2022)“…Aging is accompanied by the progressive accumulation of permanent changes to the genomic sequence, termed somatic mutations. Small mutations, including…”
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Splice-inhibition therapy targets progeria
Published in Nature medicine (01-03-2021)“…Antisense oligonucleotides that target lamin A/C pre-mRNA decrease both progerin transcript levels and progerin protein levels and extend lifespan in an animal…”
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Somatic mutations in vascular wall function and age-associated disease
Published in European heart journal (21-10-2023)Get full text
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Inhibition of DNA damage response at telomeres improves the detrimental phenotypes of Hutchinson–Gilford Progeria Syndrome
Published in Nature communications (18-11-2019)“…Hutchinson–Gilford progeria syndrome (HGPS) is a genetic disorder characterized by premature aging features. Cells from HGPS patients express progerin, a…”
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Somatic mutagenesis in satellite cells associates with human skeletal muscle aging
Published in Nature communications (23-02-2018)“…Human aging is associated with a decline in skeletal muscle (SkM) function and a reduction in the number and activity of satellite cells (SCs), the resident…”
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Transient expression of an adenine base editor corrects the Hutchinson-Gilford progeria syndrome mutation and improves the skin phenotype in mice
Published in Nature communications (02-06-2022)“…Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature ageing disorder caused by a point mutation in the LMNA gene ( LMNA c.1824 C > T), resulting in…”
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Accumulation of Progerin Affects the Symmetry of Cell Division and Is Associated with Impaired Wnt Signaling and the Mislocalization of Nuclear Envelope Proteins
Published in Journal of investigative dermatology (01-11-2019)“…Hutchinson-Gilford progeria syndrome (HGPS) is the result of a defective form of the lamin A protein called progerin. While progerin is known to disrupt the…”
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Targeting RAS‐converting enzyme 1 overcomes senescence and improves progeria‐like phenotypes of ZMPSTE24 deficiency
Published in Aging cell (01-08-2020)“…Several progeroid disorders are caused by deficiency in the endoprotease ZMPSTE24 which leads to accumulation of prelamin A at the nuclear envelope. ZMPSTE24…”
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A small-molecule ICMT inhibitor delays senescence of Hutchinson-Gilford progeria syndrome cells
Published in eLife (02-02-2021)“…A farnesylated and methylated form of prelamin A called progerin causes Hutchinson-Gilford progeria syndrome (HGPS). Inhibiting progerin methylation by…”
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Rare progerin-expressing preadipocytes and adipocytes contribute to tissue depletion over time
Published in Scientific reports (30-06-2017)“…Accumulation of progerin is believed to underlie the pathophysiology of Hutchinson-Gilford progeria syndrome, a disease characterized by clinical features…”
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Therapeutic gene editing for Hutchinson-Gilford progeria syndrome
Published in EUROPEAN JOURNAL OF HUMAN GENETICS (2019)Get full text
Conference Proceeding -
14
The Hutchinson-Gilford progeria syndrome mutation is a somatic mutation in chronic kidney disease
Published in EUROPEAN JOURNAL OF HUMAN GENETICS (2019)Get full text
Conference Proceeding -
15
Genome wide detection of somatic mutations in human muscle stem cells
Published in EUROPEAN JOURNAL OF HUMAN GENETICS (2019)Get full text
Conference Proceeding -
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Clonal occurrence of the Hutchinson-Gilford progeria syndrome lamin A mutation in chronic kidney disease
Published in EUROPEAN JOURNAL OF HUMAN GENETICS (2020)Get full text
Conference Proceeding