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2024 26
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Antisense oligonucleotide therapeutic approach for Timothy syndrome.
Chen X, Birey F, Li MY, Revah O, Levy R, Thete MV, Reis N, Kaganovsky K, Onesto M, Sakai N, Hudacova Z, Hao J, Meng X, Nishino S, Huguenard J, Pașca SP. Chen X, et al. Nature. 2024 Apr;628(8009):818-825. doi: 10.1038/s41586-024-07310-6. Epub 2024 Apr 24. Nature. 2024. PMID: 38658687 Free PMC article.
TS type 1 (TS1) is caused by a gain-of-function variant in the alternatively spliced and developmentally enriched CACNA1C exon 8A, as opposed to its counterpart exon 8. We previously uncovered several phenotypes in neurons derived from patients with TS1, including delayed …
TS type 1 (TS1) is caused by a gain-of-function variant in the alternatively spliced and developmentally enriched CACNA1C exon 8A, as …
RNA Helicase DDX5 Maintains Cardiac Function by Regulating CamkIIδ Alternative Splicing.
Jia K, Cheng H, Ma W, Zhuang L, Li H, Li Z, Wang Z, Sun H, Cui Y, Zhang H, Xie H, Yi L, Chen Z, Sano M, Fukuda K, Lu L, Pu J, Zhang Y, Gao L, Zhang R, Yan X. Jia K, et al. Circulation. 2024 Oct;150(14):1121-1139. doi: 10.1161/CIRCULATIONAHA.123.064774. Epub 2024 Jul 26. Circulation. 2024. PMID: 39056171
We found that DDX5 regulated the aberrant splicing of Ca(2+)/calmodulin-dependent protein kinase IIdelta (CamkIIdelta), thus preventing the production of CaMKIIdeltaA, which phosphorylates L-type calcium channel by serine residues of Cacna1c, leading to impaired Ca(2+) hom …
We found that DDX5 regulated the aberrant splicing of Ca(2+)/calmodulin-dependent protein kinase IIdelta (CamkIIdelta), thus preventing the …
Key Roles of CACNA1C/Cav1.2 and CALB1/Calbindin in Prefrontal Neurons Altered in Cognitive Disorders.
Datta D, Yang S, Joyce MKP, Woo E, McCarroll SA, Gonzalez-Burgos G, Perone I, Uchendu S, Ling E, Goldman M, Berretta S, Murray J, Morozov Y, Arellano J, Duque A, Rakic P, O'Dell R, van Dyck CH, Lewis DA, Wang M, Krienen FM, Arnsten AFT. Datta D, et al. JAMA Psychiatry. 2024 Sep 1;81(9):870-881. doi: 10.1001/jamapsychiatry.2024.1112. JAMA Psychiatry. 2024. PMID: 38776078 Free PMC article.
IMPORTANCE: The risk of mental disorders is consistently associated with variants in CACNA1C (L-type calcium channel Cav1.2) but it is not known why these channels are critical to cognition, and whether they affect the layer III pyramidal cells in the dorsola …
IMPORTANCE: The risk of mental disorders is consistently associated with variants in CACNA1C (L-type calcium channel Cav1.2 …
Multiple beta cell-independent mechanisms drive hypoglycemia in Timothy syndrome.
Matsui M, Lynch LE, Distefano I, Galante A, Gade AR, Wang HG, Gómez-Banoy N, Towers P, Sinden DS, Wei EQ, Barnett AS, Johnson K, Lima R, Rubio-Navarro A, Li AK, Marx SO, McGraw TE, Thornton PS, Timothy KW, Lo JC, Pitt GS. Matsui M, et al. Nat Commun. 2024 Oct 17;15(1):8980. doi: 10.1038/s41467-024-52885-3. Nat Commun. 2024. PMID: 39420001 Free PMC article.
The canonical G406R mutation that increases Ca(2+) influx through the CACNA1C-encoded Ca(V)1.2 Ca(2+) channel underlies the multisystem disorder Timothy syndrome (TS), characterized by life-threatening arrhythmias. ...
The canonical G406R mutation that increases Ca(2+) influx through the CACNA1C-encoded Ca(V)1.2 Ca(2+) channel underlies the multisyst …
The role of the risk gene CACNA1C in neuroinflammation and peripheral immunity in autism spectrum disorder.
Boller AL, Ruland T, Dantas RL, Michels S, Dannlowski U, Scheu S, Baune BT, Culmsee C, Alferink J. Boller AL, et al. Brain Behav Immun. 2025 Oct;129:709-723. doi: 10.1016/j.bbi.2025.07.004. Epub 2025 Jul 6. Brain Behav Immun. 2025. PMID: 40628340 Free article. Review.
Increasing evidence suggests that dysregulated immune processes represent a crucial aspect in ASD pathology. The CACNA1C gene, which encodes the pore-forming alpha1C subunit of the L-type calcium channel (LTCC) Ca(V)1.2, is a major genetic risk factor for ASD. ...Here, we …
Increasing evidence suggests that dysregulated immune processes represent a crucial aspect in ASD pathology. The CACNA1C gene, which …
A Natural History Study of Timothy Syndrome.
Timothy KW, Bauer R, Larkin KA, Walsh EP, Abrams DJ, Gonzalez Corcia C, Valsamakis A, Pitt GS, Dick IE, Golden A. Timothy KW, et al. Orphanet J Rare Dis. 2024 Nov 23;19(1):433. doi: 10.1186/s13023-024-03445-x. Orphanet J Rare Dis. 2024. PMID: 39580446 Free PMC article.
BACKGROUND: Timothy syndrome (OMIM #601005) is a rare disease caused by variants in the gene CACNA1C. Initially, Timothy syndrome was characterized by a cardiac presentation of long QT syndrome and syndactyly of the fingers and/or toes, all associated with the CACNA1C …
BACKGROUND: Timothy syndrome (OMIM #601005) is a rare disease caused by variants in the gene CACNA1C. Initially, Timothy syndrome was …
Genetics of Calcific Aortic Stenosis: A Systematic Review.
Vassiliou VS, Johnson N, Langlands K, Tsampasian V. Vassiliou VS, et al. Genes (Basel). 2024 Oct 10;15(10):1309. doi: 10.3390/genes15101309. Genes (Basel). 2024. PMID: 39457433 Free PMC article.
These genes are involved in different biological pathways, including the lipid metabolism pathway (PLA, LDL, APO, PCSK9, Lp-PLA2, PONS1), the inflammatory pathway (IL-6, IL-10), the calcification pathway (PALMD, TEX41) and the endocrine pathway (PTH, VIT D, RUNX2, CACNA1C, …
These genes are involved in different biological pathways, including the lipid metabolism pathway (PLA, LDL, APO, PCSK9, Lp-PLA2, PONS1), th …
Identification and validation of a prognostic model based on immune-related genes in ovarian carcinoma.
Yu M, Li D, Zhang L, Wang K. Yu M, et al. PeerJ. 2024 Oct 31;12:e18235. doi: 10.7717/peerj.18235. eCollection 2024. PeerJ. 2024. PMID: 39494284 Free PMC article.
RESULTS: We constructed a 25-genes prognostic model (TNFAIP8L3, PI3, TMEM181, GBP1P1 (LOC400759), STX18, KIF26B, MRPS11, CACNA1C, PACSIN3, GMPR, MANF, PYGB, SNRPA1, ST7L, ZBP1, BMPR1B-DT, STAC2, LINC02585, LYPD6, NSG1, ACOT13, FAM120B, LEFTY1, SULT1A2, FZD3). ...
RESULTS: We constructed a 25-genes prognostic model (TNFAIP8L3, PI3, TMEM181, GBP1P1 (LOC400759), STX18, KIF26B, MRPS11, CACNA1C, PAC …
Progress and Implications from Genetic Studies of Bipolar Disorder.
Kong L, Chen Y, Shen Y, Zhang D, Wei C, Lai J, Hu S. Kong L, et al. Neurosci Bull. 2024 Aug;40(8):1160-1172. doi: 10.1007/s12264-023-01169-9. Epub 2024 Jan 11. Neurosci Bull. 2024. PMID: 38206551 Free PMC article. Review.
To date, intriguing genetic clues have been identified to explain the development of BD, as well as the genetic association that might be applied for the development of susceptibility prediction and pharmacogenetic intervention. Risk genes of BD, such as CACNA1C, ANK3, TRA …
To date, intriguing genetic clues have been identified to explain the development of BD, as well as the genetic association that might be ap …
Epigenomic profile of GBA1 in Parkinson's disease.
Berson E, Zaghroun R, Santoro M, Bukhari S, Seong D, Shu CH, Perna A, James T, Montine KS, Serrano GE, Beach TG, Keene CD, Chang HY, Corces MR, Cholerton B, Aghaeepour N, Montine TJ. Berson E, et al. Parkinsonism Relat Disord. 2025 Nov;140:108066. doi: 10.1016/j.parkreldis.2025.108066. Epub 2025 Sep 27. Parkinsonism Relat Disord. 2025. PMID: 41033114
Nineteen chromatin-accessible regions strictly separated GBA+ from GBA-, including the promoter sites of key genes such as CACNA1C, EHMT1, and SLC25A48. The effect in GBA + spanned the main cell types in brain, and chromatin differences between GBA- and GBA + increased wit …
Nineteen chromatin-accessible regions strictly separated GBA+ from GBA-, including the promoter sites of key genes such as CACNA1C, E …
58 results