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GlossaryLaminopathies

group of genetic disorders caused by LMNA gene mutations

Laminopathies are a group of rare genetic disorders caused by mutations in the LMNA gene, which encodes proteins called lamins. These proteins are crucial for maintaining the structural integrity of the cell nucleus. Laminopathies can lead to a variety of conditions, including muscular dystrophies, cardiomyopathies, and premature aging syndromes, affecting multiple systems in the body.

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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.

research Acanthosis Nigricans and the Metabolic Syndrome

30 citations, September 2017 in “Clinics in Dermatology”

Acanthosis nigricans is a skin condition that may indicate a higher risk for insulin resistance and type 2 diabetes, and more research is needed to understand and treat it.

research MiR-29 Is an Important Driver of Aging-Related Phenotypes

2 citations, December 2022 in “bioRxiv (Cold Spring Harbor Laboratory)”

miR-29 is a key factor that accelerates aging.

research Premature Aging Syndromes: From Patients to Mechanism

29 citations, October 2019 in “Journal of dermatological science”

Studying premature aging syndromes helps understand human aging and suggests potential treatments.

research Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson-Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies

4 citations, May 2023 in “Cells”

Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.

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