Publications

CC2D1A related Publications:
Basel-Vanagaite L et al. The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation. J Med Genet. 2006;43(3):203-10. doi: 10.1136/jmg.2005.035709. Epub 2005 Jul 20. PMID: 16033914; PMCID: PMC2563235.

Manzini MC et al. CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis. Cell Rep. 2014 7;8(3):647-55. doi: 10.1016/j.celrep.2014.06.039. Epub 2014 Jul 24. PMID: 25066123; PMCID: PMC4334362.

Jauss RT et al. Routine Diagnostics Confirm Novel Neurodevelopmental Disorders. Genes (Basel). 2022;13(12):2305. doi: 10.3390/genes13122305. PMID: 36553572; PMCID: PMC9778535.

Tuncel G et al. A Homozygous Synonymous Variant Likely Cause of Severe Ciliopathy Phenotype. Genes (Basel). 2021;12(6):945. doi: 10.3390/genes12060945. PMID: 34205586; PMCID: PMC8234327.

McSherry M et al. Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability. PLoS One. 2018;13(11):e0208324. doi: 10.1371/journal.pone.0208324. PMID: 30500859; PMCID: PMC6267965.

Loviglio MN et al. Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics. Genome Med. 2016;8(1):105. doi: 10.1186/s13073-016-0359-z. PMID: 27799067; PMCID: PMC5088687.

Reuter MS et al. Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders. JAMA Psychiatry. 2017;74(3):293-299. doi: 10.1001/jamapsychiatry.2016.3798. PMID: 28097321.

Sener EF et al.  Novel alterations of CC2D1A as a candidate gene in a Turkish sample of patients with autism spectrum disorder. Int J Neurosci. 2022;132(11):1072-1079. doi: 10.1080/00207454.2020.1860968. Epub 2020 Dec 28. PMID: 33287601.

Rehman SU et al. Autozygosity mapping in consanguineous Pakistani families identifies nine non-overlapping novel linkage intervals for autosomal recessive non-syndromic mental retardation (AR-NSMR); shows genetic heterogeneity for AR-NSMR. J Pak Med Assoc. 2021;71(9):2250-2254. doi: 10.47391/JPMA.206. PMID: 34580524.

Mouse Model Publications:
Sener EF et al. Heterozygous Cc2d1a mice show sex-dependent changes in the Beclin-1/p62 ratio with impaired prefrontal cortex and hippocampal autophagy. Prog Neuropsychopharmacol Biol Psychiatry. 2023;125:110764. doi: 10.1016/j.pnpbp.2023.110764. Epub 2023 Apr 13. PMID: 37059290.

Sener EF et al. Partial changes in apoptotic pathways in hippocampus and hypothalamus of Cc2d1a heterozygous. Metab Brain Dis. 2023;38(2):531-541. doi: 10.1007/s11011-022-01125-y. Epub 2022 Dec 1. PMID: 36454503.

Zhao M et al. Cc2d1a, a C2 domain containing protein linked to nonsyndromic mental retardation, controls functional maturation of central synapses. J Neurophysiol 2011;105:1506-15.

Wang YC et al. High-Fat Diet Exacerbates Autistic-Like Restricted Repetitive Behaviors and Social Abnormalities in CC2D1A Conditional Knockout Mice. Mol Neurobiol. 2023;60(3):1331-1352. doi: 10.1007/s12035-022-03146-1. Epub 2022 Nov 29. PMID: 36445635.

Oaks AW et al. Cc2d1a loss of function disrupts functional and morphological development in forebrain neurons leading to cognitive and social deficits. Cereb Cortex 2017;27:1670-85.

Zamarbide M et al. Male specific cAMP signaling in the hippocampus controls spatial memory deficits in a mouse model of autism and intellectual disability. Biol Psychiatry 2019;85:760-8.

Dana H et al. Disregulation of Autophagy in the Transgenerational Cc2d1a Mouse Model of Autism. Neuromolecular Med 2020;22:239-49.

Ozkul Y et al. A heritable profile of six miRNAs in autistic patients and mouse models. Sci Rep. 2020;10(1):9011. doi: 10.1038/s41598-020-65847-8. PMID: 32514154; PMCID: PMC7280218.

Yang CY et al. Conditional Deletion of CC2D1A Reduces Hippocampal Synaptic Plasticity and Impairs Cognitive Function through Rac1 Hyperactivation. J Neurosci. 2019;39(25):4959-4975. doi: 10.1523/JNEUROSCI.2395-18.2019. Epub 2019 Apr 16. PMID: 30992372; PMCID: PMC6670244.

Zamarbide M et al. Loss of the Intellectual Disability and Autism Gene Cc2d1a and Its Homolog Cc2d1b Differentially Affect Spatial Memory, Anxiety, and Hyperactivity. Front Genet. 2018 Mar 2;9:65. doi: 10.3389/fgene.2018.00065. PMID: 29552027; PMCID: PMC5840150.

Yang CY et al. Loss of CC2D1A in Glutamatergic Neurons Results in Autistic-Like Features in Mice. Neurotherapeutics. 2021;18(3):2021-2039. doi: 10.1007/s13311-021-01072-z. Epub 2021 Jun 16. PMID: 34132974; PMCID: PMC8608959.

Mossa A et al. Molecular causes of sex-specific deficits in rodent models of neurodevelopmental disorders. J Neurosci Res. 2021 Jan;99(1):37-56. doi: 10.1002/jnr.24577. Epub 2019 Dec 23. PMID: 31872500; PMCID: PMC7754327.