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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 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.

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 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 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 Risk Factors, Prevalence, and Diagnosis of Hutchinson-Gilford Syndrome with Special Reference to Case Reports

2 citations, May 2017 in “International journal of pharmacy and pharmaceutical sciences/International Journal of Pharmacy and Pharmaceutical Sciences”

Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.

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