Exome sequencing reveals a novel homozygous mutation in ACP33 gene in the first Italian family with SPG21
Author:
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),Neurology
Link
http://link.springer.com/article/10.1007/s00415-017-8558-0/fulltext.html
Reference9 articles.
1. Simpson MA, Cross H, Proukakis C, Pryde A, Hershberger R, Chatonnet A, Patton MA, Crosby AH (2003) Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. Am J Hum Genet 73:1147–1156
2. Ishiura H, Takahashi Y, Hayashi T, Saito K, Furuya H, Watanabe M, Murata M, Suzuki M, Sugiura A, Sawai S, Shibuya K, Ueda N, Ichikawa Y, Kanazawa I, Goto J, Tsuji S (2014) Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses. J Hum Genet 59:163–172. doi: 10.1038/jhg.2013.139
3. Zeitlmann L, Sirim P, Kremmer E, Kolanus W (2001) Cloning of ACP33 as a novel intracellular ligand of CD4. J Biol Chem 276:9123–9132 (PubMed PMID: 11113139)
4. Hanna MC, Blackstone C (2009) Interaction of the SPG21 protein ACP33/maspardin with the aldehyde dehydrogenase ALDH16A1. Neurogenetics 10(3):217–228. doi: 10.1007/s10048-009-0172-6 (PubMed PMID: 19184135)
5. Soderblom C, Stadler J, Jupille H, Blackstone C, Shupliakov O, Hanna MC (2010) Targeted disruption of the Mast syndrome gene SPG21 in mice impairs hind limb function and alters axon branching in cultured cortical neurons. Neurogenetics 11:369–378. doi: 10.1007/s10048-010-0252-7
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1. Mast Syndrome Outside the Amish Community: SPG21 in Europe;Frontiers in Neurology;2022-01-17
2. A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face;Clinical Genetics;2021-12-13
3. circSPG21 protects against intervertebral disc disease by targeting miR-1197/ATP1B3;Experimental & Molecular Medicine;2021-10
4. Identification of a large homozygous SPG21 deletion in a Chinese patient with Mast syndrome;CNS Neuroscience & Therapeutics;2021-09-07
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