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2004 1
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131 results

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Page 1
ALMS1 and Alstrom syndrome: a recessive form of metabolic, neurosensory and cardiac deficits.
Hearn T. Hearn T. J Mol Med (Berl). 2019 Jan;97(1):1-17. doi: 10.1007/s00109-018-1714-x. Epub 2018 Nov 12. J Mol Med (Berl). 2019. PMID: 30421101 Free PMC article. Review.
ALMS1 encodes a ~ 0.5 megadalton protein that localises to the base of centrioles. ...This review outlines the evidence for both ciliary and extra-ciliary functions of ALMS1....
ALMS1 encodes a ~ 0.5 megadalton protein that localises to the base of centrioles. ...This review outlines the evidence for both cili …
Loss of the centrosomal protein ALMS1 alters lipid metabolism and the regulation of extracellular matrix-related processes.
Bea-Mascato B, Gómez-Castañeda E, Sánchez-Corrales YE, Castellano S, Valverde D. Bea-Mascato B, et al. Biol Direct. 2023 Dec 8;18(1):84. doi: 10.1186/s13062-023-00441-2. Biol Direct. 2023. PMID: 38062477 Free PMC article.
However, the cellular impact of these deregulated pathways in the absence of ALMS1 remains unknown. METHODS: In this study, we integrated RNA-seq and proteomic analysis to determine the gene expression profile of hTERT-BJ-5ta ALMS1 knockout fibroblasts after TGF-bet …
However, the cellular impact of these deregulated pathways in the absence of ALMS1 remains unknown. METHODS: In this study, we integr …
Translational readthrough of ciliopathy genes BBS2 and ALMS1 restores protein, ciliogenesis and function in patient fibroblasts.
Eintracht J, Forsythe E, May-Simera H, Moosajee M. Eintracht J, et al. EBioMedicine. 2021 Aug;70:103515. doi: 10.1016/j.ebiom.2021.103515. Epub 2021 Aug 5. EBioMedicine. 2021. PMID: 34365092 Free PMC article.
Treatment recovered IFT88 expression and corrected SSTR3 mislocalisation in BBS2(Y24*/R275*) and ALMS1(S1645*/S1645*) fibroblasts, suggesting rescue of ciliary function. INTERPRETATION: The recovery of full-length BBS2 and ALMS1 expression and correction of anatomic …
Treatment recovered IFT88 expression and corrected SSTR3 mislocalisation in BBS2(Y24*/R275*) and ALMS1(S1645*/S1645*) fibroblasts, su …
Genomic knockout of alms1 in zebrafish recapitulates Alstrom syndrome and provides insight into metabolic phenotypes.
Nesmith JE, Hostelley TL, Leitch CC, Matern MS, Sethna S, McFarland R, Lodh S, Westlake CJ, Hertzano R, Ahmed ZM, Zaghloul NA. Nesmith JE, et al. Hum Mol Genet. 2019 Jul 1;28(13):2212-2223. doi: 10.1093/hmg/ddz053. Hum Mol Genet. 2019. PMID: 31220269 Free PMC article.
Gene expression changes in beta-cells isolated from alms1-/- mutants revealed changes consistent with insulin hypersecretion and glucose sensing failure, which were corroborated in cultured murine beta-cells lacking Alms1. We also found evidence of defects in periph …
Gene expression changes in beta-cells isolated from alms1-/- mutants revealed changes consistent with insulin hypersecretion and gluc …
Energy expenditure deficits drive obesity in a mouse model of Alström syndrome.
Stephenson EJ, Kinney CE, Stayton AS, Han JC. Stephenson EJ, et al. Obesity (Silver Spring). 2023 Nov;31(11):2786-2798. doi: 10.1002/oby.23877. Epub 2023 Sep 15. Obesity (Silver Spring). 2023. PMID: 37712194
This study aimed to determine which component(s) of energy balance are reliant on ALMS1. METHODS: Comprehensive energy balance phenotyping was performed on Alms1(tvrm102) mice at both 8 and 18 weeks of age. ...Future studies will determine how ALMS1 modulates …
This study aimed to determine which component(s) of energy balance are reliant on ALMS1. METHODS: Comprehensive energy balance phenot …
A novel variant in ALMS1 in a patient with Alstrom syndrome and prenatal diagnosis for the fetus in the family: A case report and literature review.
Zhou C, Xiao Y, Xie H, Liu S, Wang J. Zhou C, et al. Mol Med Rep. 2020 Oct;22(4):3271-3276. doi: 10.3892/mmr.2020.11398. Epub 2020 Jul 31. Mol Med Rep. 2020. PMID: 32945434 Free PMC article. Review.
According to the bioinformatics analysis, the current study identified a novel frameshift mutation in exon 8 (c.2988_2989del, p.T996fs) and a rare nonsense mutation in exon 10 (c.9535C>T, p.R3179*) of the ALMS1 gene. Both parents were heterozygous carriers of this gene. …
According to the bioinformatics analysis, the current study identified a novel frameshift mutation in exon 8 (c.2988_2989del, p.T996fs) and …
The Alstrom syndrome protein, ALMS1, interacts with alpha-actinin and components of the endosome recycling pathway.
Collin GB, Marshall JD, King BL, Milan G, Maffei P, Jagger DJ, Naggert JK. Collin GB, et al. PLoS One. 2012;7(5):e37925. doi: 10.1371/journal.pone.0037925. Epub 2012 May 31. PLoS One. 2012. PMID: 22693585 Free PMC article.
The protein encoded by this gene has been implicated in ciliary function, cell cycle control, and intracellular transport. To gain better insight into the pathways through which ALMS1 functions, we carried out a yeast two hybrid (Y2H) screen in several mouse tissue librari …
The protein encoded by this gene has been implicated in ciliary function, cell cycle control, and intracellular transport. To gain better in …
Role of Alström syndrome 1 in the regulation of glomerular hemodynamics.
Monu SR, Potter DL, Liao TD, King KN, Ortiz PA. Monu SR, et al. Am J Physiol Renal Physiol. 2023 Oct 1;325(4):F418-F425. doi: 10.1152/ajprenal.00017.2023. Epub 2023 Aug 10. Am J Physiol Renal Physiol. 2023. PMID: 37560774
TGF sensitivity was higher in ALMS1 KO rats as measured by in vivo renal micropuncture. Using confocal microscopy, we confirmed immunolabeling of ALMS1 in macula densa cells (nitric oxide synthase 1 positive), supporting a role for ALMS1 in TGF regulation. .. …
TGF sensitivity was higher in ALMS1 KO rats as measured by in vivo renal micropuncture. Using confocal microscopy, we confirmed immun …
Centriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731.
Knorz VJ, Spalluto C, Lessard M, Purvis TL, Adigun FF, Collin GB, Hanley NA, Wilson DI, Hearn T. Knorz VJ, et al. Mol Biol Cell. 2010 Nov 1;21(21):3617-29. doi: 10.1091/mbc.E10-03-0246. Epub 2010 Sep 15. Mol Biol Cell. 2010. PMID: 20844083 Free PMC article.
The C-terminus of ALMS1 contains a region with similarity to the uncharacterized human protein C10orf90, termed the ALMS motif. ...RNAi analysis reveals markedly diminished centrosomal levels of C-Nap1 and compromised cohesion of parental centrioles in ALMS1-deplete …
The C-terminus of ALMS1 contains a region with similarity to the uncharacterized human protein C10orf90, termed the ALMS motif. ...RN …
ALMS1-NKCC2 interactions.
Allison SJ. Allison SJ. Nat Rev Nephrol. 2019 Feb;15(2):62. doi: 10.1038/s41581-018-0084-5. Nat Rev Nephrol. 2019. PMID: 30443014 No abstract available.
131 results