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UnknownLamin B is a target for selective nuclear PQC by BAG3: implication for nuclear envelopathies.
Not available
S-EPMC6328609 | biostudies-literature
UnknownTwo novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies.
Not available
S-EPMC7078146 | biostudies-literature
UnknownTOR1AIP1-Associated Nuclear Envelopathies.
Not available
S-EPMC10138496 | biostudies-literature
UnknownThe nuclear envelope: an intriguing focal point for neurogenetic disease.
Not available
S-EPMC4391386 | biostudies-literature
UnknownCombined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy.
Not available
S-EPMC6363790 | biostudies-literature
TranscriptomicsLoss of function of the nuclear envelope protein LEMD2 causes DNA damage-dependent cardiomyopathy
Mutations in nuclear envelope proteins (NEPs) cause devastating genetic diseases, known as envelopathies, which primarily affect the heart and skeletal muscle. A mutation in the NEP LEMD2 causes severe cardiomyopathy in humans. However, the roles of LEMD2 in the heart and the pathological mechanisms...
ORGANISM(S): Mus musculus 
2022-10-13 | GSE194218 | GEO
UnknownLoss of function of the nuclear envelope protein LEMD2 causes DNA damage-dependent cardiomyopathy.
Not available
S-EPMC9663152 | biostudies-literature
GenomicsLoss of function of the nuclear envelope protein LEMD2 causes DNA damage-dependent cardiomyopathy
Loss of function of the nuclear envelope protein LEMD2 causes DNA damage-dependent cardiomyopathy
PRJNA799748 | ENA
UnknownLEMD2-associated progeroid syndrome: Expanding the phenotype of the nuclear envelopathy caused by a defect in LEMD2 gene.
Not available
S-EPMC11320348 | biostudies-literature
TranscriptomicsLoss of the Nuclear Envelope Protein LAP1B Disrupts Myogenic Differentiation of Patient-Derived Fibroblasts
Lamina-associated polypeptide 1 (LAP1) is a ubiquitously expressed inner nuclear membrane protein encoded by TOR1AIP1, and present as two isoforms in humans, LAP1B and LAP1C. While loss of both isoforms results in a multisystemic progeroid-like syndrome, specific loss of LAP1B causes muscular dystro...
ORGANISM(S): Homo sapiens 
2022-10-02 | GSE214495 | GEO
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