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http://dx.doi.org/10.1038/ejhg.2014.152 | DOI Listing |
FEBS J
August 2025
Department of Biotechnology and Life Sciences, Centre of NeuroScience, University of Insubria, Busto Arsizio, Italy.
Cyclin-dependent kinase-like 5 (CDKL5) is a serine-threonine kinase implicated in regulating microtubule (MT) dynamics. Mutations in CDKL5 are associated with a rare neurodevelopmental disease called CDKL5 deficiency disorder (CDD), which is characterized by early-onset seizures and intellectual disabilities. Microtubule (MT)-related functions of CDKL5 are in part correlated with its interaction with MT-associated proteins, such as CAP-Gly domain-containing linker protein 1 [CLIP1; also known as cytoplasmic linker protein 170 alpha-2 (CLIP170)].
View Article and Find Full Text PDFBiochem Biophys Res Commun
December 2022
Institute of Molecular Biology, Academia Sinica, Taipei, 115, Taiwan; Institute of Molecular and Cellular Biology, National Tsing-Hua University, Hsinchu, 300, Taiwan; Graduate Institute of Biomedical Sciences, Neuroscience and Brain Disease Center, China Medical University, Taichung, 404, Taiwan. E
Pregnenolone (P5) is a steroid that functions in the brain and in zebrafish embryogenesis. It is synthesized from cholesterol via the enzymatic activity of P450scc, encoded by CYP11A1. P5 exerts its function by activating CLIP1, which in turn promotes microtubule assembly necessary for many biological processes including embryogenesis.
View Article and Find Full Text PDFHum Genomics
March 2022
Department of Gynecological Oncology, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, Dongcheng, Beijing, 100006, China.
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also known as Müllerian agenesis, is characterized by uterovaginal aplasia in an otherwise phenotypically normal female with a normal 46,XX karyotype. Previous studies have associated sequence variants of PAX8, TBX6, GEN1, WNT4, WNT9B, BMP4, BMP7, HOXA10, EMX2, LHX1, GREB1L, LAMC1, and other genes with MRKH syndrome. The purpose of this study was to identify the novel genetic causes of MRKH syndrome.
View Article and Find Full Text PDFEur J Hum Genet
March 2015
Genetics Research Center (GRC), University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
In the context of a comprehensive research project, investigating novel autosomal recessive intellectual disability (ARID) genes, linkage analysis based on autozygosity mapping helped identify an intellectual disability locus on Chr.12q24, in an Iranian family (LOD score = 3.7).
View Article and Find Full Text PDF