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ProteomicsObscurin and Obsl1 functions for “Murine obscurin and Obsl1 have functionally redundant roles in sarcolemmal integrity, sarcoplasmic reticulum organization, and muscle metabolism.”
“Murine obscurin and Obsl1 have functionally redundant roles in sarcolemmal integrity, sarcoplasmic reticulum organization, and muscle metabolism.”
ORGANISM(S): Mus musculus (Mouse) 
2019-05-20 | PXD013008 | Pride
Obscurin Obsl1 Sarcoplasmic reticulum organization Muscle metabolism Sarcolemmal integrity 
UnknownThe primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.
Not available
S-EPMC2694976 | biostudies-literature
UnknownMurine obscurin and Obsl1 have functionally redundant roles in sarcolemmal integrity, sarcoplasmic reticulum organization, and muscle metabolism.
Not available
S-EPMC6509138 | biostudies-literature
UnknownExome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth.
Not available
S-EPMC3135816 | biostudies-literature
UnknownObscurin-like 1, OBSL1, is a novel cytoskeletal protein related to obscurin.
Not available
S-EPMC1885211 | biostudies-literature
UnknownExpanding OBSL1 Mutation Phenotype: Disproportionate Short Stature, Barrel Chest, Thoracic Kyphoscoliosis, Hypogonadism, and Hypospadias.
Not available
S-EPMC10524810 | biostudies-literature
ProteomicsCombined loss of obscurin and obscurin-like 1 in murine hearts results in diastolic dysfunction, altered metabolism and deregulated mitophagy.
Background: Muscle proteins of the obscurin protein family play important roles in sarcomere organization, sarcoplasmic reticulum (SR) and T-tubule architecture and function. However, their precise molecular functions and redundancies between protein family members as well as their involvement in...
ORGANISM(S): Mus musculus (Mouse) 
2025-05-07 | PXD058697 | Pride
Mouse heart muscle itraq obscurin 
UnknownWhole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome.
Not available
S-EPMC4315153 | biostudies-literature
TranscriptomicsCombined loss of obscurin and obscurin-like 1 in murine hearts results in diastolic dysfunction, altered metabolism and deregulated mitophagy.
RNAseq raw data generated from total cardiac RNA of cardiac specific Obscurin x Obsl1 knockout mice
ORGANISM(S): Mus musculus 
2025-02-01 | GSE283745 | GEO
GenomicsCombined loss of obscurin and obscurin-like 1 in murine hearts results in diastolic dysfunction, altered metabolism and deregulated mitophagy.
Combined loss of obscurin and obscurin-like 1 in murine hearts results in diastolic dysfunction, altered metabolism and deregulated mitophagy.
PRJNA1195122 | ENA
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