Article

Loss of the centrosomal protein ALMS1 alters lipid metabolism and the regulation of extracellular matrix-related processes

2022-11-02

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Alström syndrome (ALMS) is a rare autosomal recessive disease that is associated with mutations in ALMS1 gene. The main clinical manifestations of ALMS are retinal dystrophy, obesity, type 2 diabetes mellitus, dilated cardiomyopathy and multi-organ fibrosis, characteristic in kidneys and liver. Depletion of the protein encoded by ALMS1 has been associated with the alterati...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: f13a89ee-9792-54e5-ab7a-64588681f78a
DOI: 10.1101/2022.11.02.514847

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Loss of the centrosomal protein ALMS1 alters lipid metabolism and the regulation of extracellular matrix-related processesDOI 10.1101/2022.11.02.514847Read

Depletion of <i>ALMS1</i> affects TGF-β signalling pathway and downstream processes such as cell migration and adhesion capacitySemantic proximity Read

Subcellular Localization of ALMS1 Supports Involvement of Centrosome and Basal Body Dysfunction in the Pathogenesis of Obesity, Insulin Resistance, and Type 2 DiabetesSemantic proximity Read

<i>alms1</i> regulates the immune response and brain ageing in zebrafishSemantic proximity Read

Phosphoproteomic profiling highlights CDC42 and CDK2 as key players in the regulation of the TGF-β pathway in <i>ALMS1</i> and <i>BBS1</i> knockout modelsSemantic proximity Read

Genomic knockout of <i>alms1</i> in zebrafish recapitulates Alström syndrome and provides insight into metabolic phenotypesSemantic proximity Read

Alström Syndrome: Mutation Spectrum of ALMS1.Semantic proximity Read

Mesenchymal-specific Alms1 knockout in mice recapitulates key metabolic features of Alström SyndromeSemantic proximity Read

Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome.Semantic proximity Read

Whole-exome sequencing revealed a novel mutation of the ALMS1 gene in a Chinese family with Alström syndrome: a case reportSemantic proximity Read

TGFβ-dependent upregulation of OCIAD2 is essential for epithelial-to-mesenchymal transition during mesendoderm differentiationSemantic proximity Read

Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations.Semantic proximity Read

Alström syndrome: insights into the pathogenesis of metabolic disorders.Semantic proximity Read