ATP8A2-related disorders as recessive cerebellar ataxia-Reference-Cited by-同舟云学术

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ATP8A2-related disorders as recessive cerebellar ataxia

Published:2019-10-14 Issue:1 Volume:267 Page:203-213
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Guissart Claire^ORCID,Harrison Alexander N.,Benkirane Mehdi,Oncel Ibrahim,Arslan Elif Acar,Chassevent Anna K .,Baraῆano Kristin,Larrieu Lise,Iascone Maria,Tenconi Romano,Claustres Mireille,Eroglu-Ertugrul Nesibe,Calvas Patrick,Topaloglu Haluk,Molday Robert S.,Koenig Michel

Funder

Agence Nationale pour la Recherche (ANR)/E-rare Joint Trans-national Call (JTC) 2011 ‘Euro-SCAR’

Canadian Institutes of Health Research

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Link

http://link.springer.com/content/pdf/10.1007/s00415-019-09579-4.pdf

Reference25 articles.

1. Tan U (2006) A new syndrome with quadrupedal gait, primitive speech, and severe mental retardation as a live model for human evolution. Int J Neurosci 116:361–369. https://doi.org/10.1080/00207450500455330

2. Schlotawa L, Hotz A, Zeschnigk C et al (2013) Cerebellar ataxia, mental retardation and dysequilibrium syndrome 1 (CAMRQ1) caused by an unusual constellation of VLDLR mutation. J Neurol 260:1678–1680. https://doi.org/10.1007/s00415-013-6941-z

3. Doldur-Balli F, Ozel MN, Gulsuner S et al (2015) Characterization of a novel zebrafish (Danio rerio) gene, wdr81, associated with cerebellar ataxia, mental retardation and dysequilibrium syndrome (CAMRQ). BMC Neurosci 16:96. https://doi.org/10.1186/s12868-015-0229-4

4. Türkmen S, Guo G, Garshasbi M et al (2009) CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait. PLoS Genet 5:e1000487. https://doi.org/10.1371/journal.pgen.1000487

5. Onat OE, Gulsuner S, Bilguvar K et al (2013) Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion. Eur J Hum Genet 21:281–285. https://doi.org/10.1038/ejhg.2012.170

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1. Role of Enzymes Capable of Transporting Phosphatidylserine in Brain Development and Brain Diseases;ACS Omega;2024-08-01

2. A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes;Neurogenetics;2024-07-27

3. A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability ofATP8A2-related disorders caused by missense changes;2024-05-15

4. Functional and in silico analysis of ATP8A2 and other P4-ATPase variants associated with human genetic diseases;Disease Models & Mechanisms;2024-04-24

5. Flipping the script: Advances in understanding how and why P4-ATPases flip lipid across membranes;Biochimica et Biophysica Acta (BBA) - Molecular Cell Research;2024-04

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