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PROGERIN

Progeria

Genetic disorder that causes early aging

together. When this gene mutates, an abnormal form of lamin A protein called progerin is produced. Progeroid syndromes are a group of diseases that cause individuals

Progeria

Progerin

Mutant lamin A protein

Progerin (UniProt# P02545-6) is a truncated version of the lamin A protein involved in the pathology of Hutchinson–Gilford progeria syndrome (HGPS). Progerin

Progerin

Laminopathy

Medical condition

LMNA mRNA, therefore producing abnormal lamin A protein, also known as progerin. The mutations activate a cryptic splice site within exon 11 of the gene

Laminopathy

Channing Der

American biologist

Adrienne D.; Collins, Francis S. (2005-09-06). "Inhibiting farnesylation of progerin prevents the characteristic nuclear blebbing of Hutchinson-Gilford progeria

Channing Der

Channing_Der

Cellular senescence

Phenomenon characterized by the cessation of cell division

alterations in alternative RNA splicing that produce senescent toxins such as progerin, which degrades tissue and makes it more prone to failure. BRAFV600E and

Cellular senescence

Cellular_senescence

Lonafarnib

Medication investigated as a treatment for progeria

is an oral medication that helps prevent the buildup of defective progerin or progerin-like protein. Its effectiveness for the treatment of Hutchinson–Gilford

Lonafarnib

Progeroid syndromes

Range of genetic disorders which cause a person to appear to grow older faster

being deleted. This results in a truncated lamin A precursor (a.k.a. progerin or LaminAΔ50). After being translated, a farnesol is added to prelamin

Progeroid syndromes

Progeroid_syndromes

Prelamin-A/C

Filament protein

Consequently, no mature lamin A is formed, and a farnesylated mutant prelamin A (progerin) accumulates in cells. The nuclear lamina consist of a two-dimensional

Prelamin-A/C

PCGF6

Protein-coding gene in the species Homo sapiens

PMID 16189514. S2CID 4427026. Zhong N, Radu G, Ju W, Brown WT (2006). "Novel progerin-interactive partner proteins hnRNP E1, EGF, Mel 18, and UBC9 interact with

PCGF6

Sammy Basso

Italian biologist and writer with progeria (1995–2024)

and C; the mutation causes the production of truncated lamins A, called progerins, which cause the premature ageing typical of the disease. In 2006, the

Sammy Basso

Sammy_Basso

Elizabeth Nabel

American academic

Administration approved lonafarnib, which helps prevent buildup of defective progerin and similar proteins. A clinical trial in 2018 pointed to significantly

Elizabeth Nabel

Elizabeth_Nabel

UNC13D

Protein-coding gene in humans

1182/blood-2009-06-225359. PMID 19704116. Zhong N, Radu G, Ju W, Brown WT (2005). "Novel progerin-interactive partner proteins hnRNP E1, EGF, Mel 18, and UBC9 interact with

UNC13D