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Disruption of ER ion homeostasis maintained by an ER anion channel CLCC1 contributes to ALS-like pathologies.
Guo L, Mao Q, He J, Liu X, Piao X, Luo L, Hao X, Yu H, Song Q, Xiao B, Fan D, Gao Z, Jia Y. Guo L, et al. Cell Res. 2023 Jul;33(7):497-515. doi: 10.1038/s41422-023-00798-z. Epub 2023 May 4. Cell Res. 2023. PMID: 37142673 Free PMC article.
We identified conserved residues D25 and D181 in CLCC1 N-terminus responsible for Ca(2+) binding and luminal Ca(2+)-mediated inhibition on channel open probability and K298 in CLCC1 intraluminal loop as the critical PIP2-sensing residue. ...Phenotypic comparisons of …
We identified conserved residues D25 and D181 in CLCC1 N-terminus responsible for Ca(2+) binding and luminal Ca(2+)-mediated inhibiti …
UndERACting ion channels in neurodegeneration.
Jacobs MT, San Gil R, Walker AK. Jacobs MT, et al. Trends Neurosci. 2024 Feb;47(2):87-89. doi: 10.1016/j.tins.2023.11.002. Epub 2023 Nov 29. Trends Neurosci. 2024. PMID: 38030509
In a recent study, Guo and colleagues characterised the function of an elusive endoplasmic reticulum (ER) anion channel protein, Chloride Channel CLiC Like 1 (CLCC1), and identified rare CLCC1 variants in people with amyotrophic lateral sclerosis (ALS). CLCC1 …
In a recent study, Guo and colleagues characterised the function of an elusive endoplasmic reticulum (ER) anion channel protein, Chloride Ch …
Loss of Clcc1 results in ER stress, misfolded protein accumulation, and neurodegeneration.
Jia Y, Jucius TJ, Cook SA, Ackerman SL. Jia Y, et al. J Neurosci. 2015 Feb 18;35(7):3001-9. doi: 10.1523/JNEUROSCI.3678-14.2015. J Neurosci. 2015. PMID: 25698737 Free PMC article.
By positional cloning, we identify the mutation in this strain as a retrotransposon insertion in the Clcc1 gene, which encodes a putative chloride channel localized to the ER. ...In agreement, GRP78, the major HSP70 family chaperone in the ER, is upregulated in Clcc1 …
By positional cloning, we identify the mutation in this strain as a retrotransposon insertion in the Clcc1 gene, which encodes a puta …
Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa.
Li L, Jiao X, D'Atri I, Ono F, Nelson R, Chan CC, Nakaya N, Ma Z, Ma Y, Cai X, Zhang L, Lin S, Hameed A, Chioza BA, Hardy H, Arno G, Hull S, Khan MI, Fasham J, Harlalka GV, Michaelides M, Moore AT, Coban Akdemir ZH, Jhangiani S, Lupski JR, Cremers FPM, Qamar R, Salman A, Chilton J, Self J, Ayyagari R, Kabir F, Naeem MA, Ali M, Akram J, Sieving PA, Riazuddin S, Baple EL, Riazuddin SA, Crosby AH, Hejtmancik JF. Li L, et al. PLoS Genet. 2018 Aug 29;14(8):e1007504. doi: 10.1371/journal.pgen.1007504. eCollection 2018 Aug. PLoS Genet. 2018. PMID: 30157172 Free PMC article.
The p.D25E alteration decreased CLCC1 channel function accompanied by accumulation of mutant protein in granules within the ER lumen, while siRNA knockdown of CLCC1 mRNA induced apoptosis in cultured ARPE-19 cells. ...Together these results strongly suggest that int …
The p.D25E alteration decreased CLCC1 channel function accompanied by accumulation of mutant protein in granules within the ER lumen, …
TGFβ-Responsive HMOX1 Expression Is Associated with Stemness and Invasion in Glioblastoma Multiforme.
Ghosh D, Ulasov IV, Chen L, Harkins LE, Wallenborg K, Hothi P, Rostad S, Hood L, Cobbs CS. Ghosh D, et al. Stem Cells. 2016 Sep;34(9):2276-89. doi: 10.1002/stem.2411. Epub 2016 Jul 4. Stem Cells. 2016. PMID: 27354342 Free PMC article.
Glioblastoma multiforme (GBM) is the most common and lethal adult brain tumor. Resistance to standard radiation and chemotherapy is thought to involve survival of GBM cancer stem cells (CSCs). ...Employing targeted mass spectrometry, here we present five cell-surface marke …
Glioblastoma multiforme (GBM) is the most common and lethal adult brain tumor. Resistance to standard radiation and chemotherapy is t …
Identification of a novel chloride channel expressed in the endoplasmic reticulum, golgi apparatus, and nucleus.
Nagasawa M, Kanzaki M, Iino Y, Morishita Y, Kojima I. Nagasawa M, et al. J Biol Chem. 2001 Jun 8;276(23):20413-8. doi: 10.1074/jbc.M100366200. Epub 2001 Mar 5. J Biol Chem. 2001. PMID: 11279057 Free article.
Messenger RNA for this gene was expressed abundantly in the testis and moderately in the spleen, liver, kidney, heart, brain, and lung. In the testis, immunoreactivity of the gene product was detected both in the cytoplasm and the nucleus. ...
Messenger RNA for this gene was expressed abundantly in the testis and moderately in the spleen, liver, kidney, heart, brain, and lun …