Memorable Speech

Paterson, John K.

doi:10.1177/014107689408701113

Cited by 1 publication

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“…[94][95][96][97][98] The blood vessels of the HGPS probands may show arteriosclerosis. 99 Individuals with HGPS also show severe cardiovascular abnormalities with advancing age. 96,100 Intellectual abilities are normal, and no other neurodevelopmental abnormalities are noted in affected individuals.…”

Section: Laminopathic Diseasesmentioning

confidence: 99%

Nuclear proteostasis imbalance in laminopathy‐associated premature aging diseases

Pande

Ghosh

2023

The FASEB Journal

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Laminopathies are a group of rare genetic disorders with heterogeneous clinical phenotypes such as premature aging, cardiomyopathy, lipodystrophy, muscular dystrophy, microcephaly, epilepsy, and so on. The cellular phenomena associated with laminopathy invariably show disruption of nucleoskeleton of lamina due to deregulated expression, localization, function, and interaction of mutant lamin proteins. Impaired spatial and temporal tethering of lamin proteins to the lamina or nucleoplasmic aggregation of lamins are the primary molecular events that can trigger nuclear proteotoxicity by modulating differential protein–protein interactions, sequestering quality control proteins, and initiating a cascade of abnormal post‐translational modifications. Clearly, laminopathic cells exhibit moderate to high nuclear proteotoxicity, raising the question of whether an imbalance in nuclear proteostasis is involved in laminopathic diseases, particularly in diseases of early aging such as HGPS and laminopathy‐associated premature aging. Here, we review nuclear proteostasis and its deregulation in the context of lamin proteins and laminopathies.

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