Isoprenylcysteine Carboxylmethyltransferase-Based Therapy for Hutchinson–Gilford Progeria Syndrome

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The Isoprenoid Substrate Specificity of Isoprenylcysteine Carboxylmethyltransferase

Isoprenylcysteine carboxylmethyltransferase (Icmt) is an integral membrane protein localized to the endoplasmic reticulum of eukaryotic cells that catalyzes the post-translational -carboxylmethylesterification of CAAX motif proteins, including the oncoprotein Ras. Prior to methylation, these protein substrates all contain an isoprenylcysteine residue at the C terminus. In this study, we develop...

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Hutchinson-Gilford Progeria Syndrome

The Hutchinson-Gilford syndrome or progeria is a laminopathy generated by mutations that affect LMNA gene. This produces an abnormal protein named progerine which alters the formation of the cellular membrane inducing premature aging of all cells. In the present review aspects related to the pathophysiology and clinical characteristics of this syndrome are shown.

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Hutchinson-Gilford Progeria Syndrome

Hutchinson-Gilford Progeria Syndrome (HGPS) is a lethal congenital disorder, characterised by premature appearance of accelerated ageing in children. Although HGPS was first descri‐ bed by Jonathan Hutchinson [1] and then by Hastings Gilford [2] more than a century ago, it was not until 2003 that the genetic basis of HGPS was uncovered [3, 4]. Approximately 90% of HGPS patients have an identica...

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Adult Progeria: Werner Syndrome.

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ژورنال

عنوان ژورنال: ACS Central Science

سال: 2021

ISSN: 2374-7943,2374-7951

DOI: 10.1021/acscentsci.0c01698