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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 Progeria (Hutchinson-Gilford Syndrome): Literature Review and Clinical Case

1 citations , July 2022 in “Вопросы современной педиатрии”

Progeria causes early aging due to a gene mutation, affecting skin, bones, and heart, with treatments aimed at improving life quality.

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 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.

research Lamins in Development, Tissue Maintenance, and Stress

64 citations , November 2012 in “EMBO reports”

Lamins are vital for cell survival, organ development, and preventing premature aging.

research How to Diagnose a Lipodystrophy Syndrome

53 citations , June 2012 in “Annales d'Endocrinologie”

The document concludes that recognizing and properly diagnosing lipodystrophy syndromes is crucial for effective management and treatment.

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