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ProteomicsInteractome analysis reveals a link of the novel ALMS1-CEP70 complex to centrosomal clusters
Alström syndrome (ALMS) is a very rare autosomal-recessive disorder, causing a broad range of clinical defects most notably retinal degeneration, type 2 diabetes and truncal obesity. The ALMS1 gene codes for a ~0.5 MDa protein, which has hampered analysis in the past. Interestingly, ALMS1 has been s...
ORGANISM(S): Homo sapiens (Human) 
2024-01-25 | PXD046401 | Pride
Cilia Centrosome Basal body Ciliopathy Alström syndrome Crispr/cas9 Protein complex analysis 
ProteomicsCRISPR-Cas9-mediated ALMS1 knockout inhibits TGF-β signalling and epithelial-mesenchyme transition.
In this project we evaluated the proteomic profiling with TGF-β stimuli at 24h in a CRISPR-Cas9 model for ALMS1 gene in HeLa cells. Proteomic results showed a majority inhibition of downstream regulated pathways by the TGF-β, associating the protein coding genes (PCG) with processes like focal adhes...
ORGANISM(S): Homo sapiens (Human) 
2023-03-11 | PXD024964 | Pride
Epithelial-mesenchyme transition Tgf-β Alms1 Hela Fibrosis Alström syndrome Lc-esi-ms/ms 
ProteomicsLoss of centrosomal gene ALMS1 alters lipid metabolism and the regulation of processes linked to the extracellular matrix.
In this project we evaluated the proteomic profiling with TGF-β stimuli at 24h in a CRISPR-Cas9 model for ALMS1 gene in hTERT-BJ-5ta cells. Proteomic results showed a majority inhibition of downstream regulated pathways by the TGF-β, associating the protein coding genes (PCG) with processes like TGF...
ORGANISM(S): Homo sapiens (Human) 
2024-01-26 | PXD035708 | Pride
Tgf-β Akt Ciliopathy Alms1 Alström syndrome Lc-esi-ms/ms Primary cilia 
GenomicsExamination of gene expression in beta-cells isolated from either wildtype or alms1 mutant zebrafish
Examination of gene expression in beta-cells isolated from either wildtype or alms1 mutant zebrafish
PRJNA515911 | ENA
ProteomicsPhosphoproteomic profiling highlights CDC42 and CDK2 as key players in the regulation of the TGF-β pathway in ALMS1 and BBS1.
Using genomic editing with CRISPR-CAS9 and phosphoproteomics we have studied the TGF-β signalling pathway in knock-out (KO) models for ALMS1 and BBS1 genes. We have developed a network diffusion-based analysis pipeline to expand the data initially obtained and to be able to determine which processes...
ORGANISM(S): Homo sapiens (Human) 
2025-11-17 | PXD037573 | Pride
Ciliopathies Tgf-β Alms1 Bardet-biedl syndrome. Alström syndrome Phosphoproteomics Bbs1 
TranscriptomicsExamination of gene expression in beta-cells isolated from either wildtype or alms1 mutant zebrafish
Examination of gene expression in beta-cells isolated from either wildtype or alms1 mutant zebrafish
ORGANISM(S): Danio rerio 
2019-02-15 | GSE125354 | GEO
UnknownAlstrom Syndrome: Mutation Spectrum of ALMS1.
Not available
S-EPMC4475486 | biostudies-literature
GenomicsLoss of centrosomal gene ALMS1 alters lipid metabolism and the regulation of processes linked to the extracellular matrix.
Loss of centrosomal gene ALMS1 alters lipid metabolism and the regulation of processes linked to the extracellular matrix.
PRJNA862693 | ENA
TranscriptomicsTranscription profiling of human primary cultured fibroblasts from patients with ALMS1 vs healthy patients
We compared the transcriptional profile of primary cultured fibroblasts obtained from four patients carrying ALMS1 mutation with a pool of primary cultured fibroblasts obtained from three healthy individuals. Gene expression was determined using comparative hybridization perfomed on MicroCRIBI Human...
ORGANISM(S): Homo sapiens 
2010-12-14 | E-MEXP-2492 | biostudies-arrayexpress
UnknownALMS1 Regulates TGF-β Signaling and Morphology of Primary Cilia.
Not available
S-EPMC7882606 | biostudies-literature
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