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GlossaryProgerin

defective protein causing premature aging in Hutchinson-Gilford Progeria Syndrome

Progerin is a defective protein that is produced in cells due to a mutation in the LMNA gene, which normally codes for the lamin A protein. This abnormal protein is associated with Hutchinson-Gilford Progeria Syndrome (HGPS), a rare genetic disorder that causes accelerated aging in children. Progerin disrupts the normal structure and function of the cell nucleus, leading to various symptoms of premature aging.

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research Targeted transgenic expression of the mutation causing Hutchinson-Gilford progeria syndrome leads to proliferative and degenerative epidermal disease

85 citations , March 2008 in “Journal of Cell Science”

The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.

research Inhibition of JAK-STAT Signaling with Baricitinib Reduces Inflammation and Improves Cellular Homeostasis in Progeria Cells

51 citations , October 2019 in “Cells”

Baricitinib reduces inflammation and improves cell health in premature aging cells.

research Epidermal expression of the truncated prelamin A causing Hutchinson-Gilford progeria syndrome: effects on keratinocytes, hair and skin

48 citations , April 2008 in “Human Molecular Genetics”

Progerin affects cell shape but not hair or skin in mice.

Hutchinson-Gilford Progeria Syndrome: Current Status and Prospects for Gene Therapy Treatment

research Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment

39 citations , January 2019 in “Cells”

Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.

Endoplasmic Reticulum Stress at the Crossroads of Progeria and Atherosclerosis

research Endoplasmic reticulum stress at the crossroads of progeria and atherosclerosis

11 citations , March 2019 in “EMBO molecular medicine”

A defective protein in progeria causes cell death and atherosclerosis, but a treatment targeting cell stress may reduce these effects.

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