Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1

Autor: van de Kamp, JM, Errami, A, Howidi, M, Anselm, I, Winter, S, Phalin-Roque, J, Osaka, H, van Dooren, SJM, Verheijen - Mancini, Grazia, Steinberg, SJ, Salomons, GS

Publikováno v: van de Kamp, J M, Errami, A, Howidi, M, Anselm, I, Winter, S, Phalin-Roque, J, Osaka, H, van Dooren, S J M, Mancini, G M, Steinberg, S J & Salomons, G 2015, ' Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1 ', Clinical Genetics, vol. 87, no. 2, pp. 141-147 . https://doi.org/10.1111/cge.12355
Clinical Genetics, 87(2), 141-147. Wiley-Blackwell
Clinical Genetics, 87(2), 141-147. Wiley-Blackwell Publishing Ltd

The BCAP31 gene is located between SLC6A8, associated with X-linked creatine transporter deficiency, and ABCD1, associated with X-linked adrenoleukodystrophy. Recently, loss-of-function mutations in BCAP31 were reported in association with severe dev

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::29348b5c9c09ff5fa8ca8500f7f5269b
https://research.vumc.nl/en/publications/ff56d44d-ccf0-4861-b771-c8e87832c282

Possible mitochondrial dysfunction in a patient with deafness, dystonia, and cerebral hypomyelination (DDCH) due to BCAP31 Mutation.

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Schimke XLID syndrome results from a deletion in BCAP31.

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Publikováno v: American Journal of Medical Genetics. Part A; Sep2020, Vol. 182 Issue 9, p2168-2174, 7p

The upregulation of Nur77 decreases ketamine-induced hippocampal neurons toxicity in rats.

Autor: Li M; Department of Neurology, Taizhou First People's Hospital, Taizhou, Zhejiang, China., Xue Y

Publikováno v: Neuroreport [Neuroreport] 2021 Dec 08; Vol. 32 (17), pp. 1370-1378.