Results 31 to 40 of about 2,451 (126)

Decreased content of ascorbic acid (vitamin C) in the brain of knockout mouse models of Na+,K+-ATPase-related neurologic disorders.

PLoS ONE, 2021
Na+,K+-ATPase is a crucial protein responsible for maintaining the electrochemical gradients across the cell membrane. The Na+,K+-ATPase is comprised of catalytic α, β, and γ subunits.
Keiko Ikeda, Adriana A Tienda, Fiona E Harrison, Kiyoshi Kawakami   +3 more
doaj   +1 more source

Effect of Flunarizine on Alternating Hemiplegia of Childhood in a Patient with the p.E815K Mutation in ATP1A3: A Case Report

Case Reports in Neurology, 2020
Alternating hemiplegia of childhood (AHC) (MIM 104290) is characterized by transient repeated attacks of paresis on either or both sides of the body, oculomotor and autonomic abnormalities, movement disorders, and cognitive impairment.
Shouichirou Kusunoki, Jun Kido, Ken Momosaki, Takaaki Sawada, Tomoko Kashiki, Shirou Matsumoto, Kimitoshi Nakamura   +6 more
doaj   +1 more source

Alternating Hemiplegia of Childhood: Genotype–Phenotype Correlations in a Cohort of 39 Italian Patients

Frontiers in Neurology, 2021
Alternating hemiplegia of childhood is a rare neurological disease characterized by paroxysmal movement disorders and chronic neurological disturbances, with onset before 18 months of age. Mutations in the ATP1A3 gene have been identified in up to 80% of
Ramona Cordani, Michela Stagnaro, Livia Pisciotta, Livia Pisciotta, Francesco Danilo Tiziano, Maria Grazia Calevo, Lino Nobili, Lino Nobili, I.B.AHC Consortium, Elisa De Grandis, Elisa De Grandis   +10 more
doaj   +1 more source

Two novel heterozygous variants in ATP1A3 cause movement disorders

Human Genome Variation, 2022
Variants in ATP1A3 cause neuropsychiatric disorders, especially those characterized by movement disorders. In this study, we performed whole exome sequencing for two patients with movement disorders and identified two novel heterozygous ATP1A3 variants ...
Shogo Furukawa, Sachiko Miyamoto, Shinobu Fukumura, Kazuo Kubota, Toshiaki Taga, Mitsuko Nakashima, Hirotomo Saitsu   +6 more
doaj   +1 more source

ATP1A3 Mutation in Adult Rapid-Onset Ataxia. [PDF]

PLoS ONE, 2016
A 21-year old male presented with ataxia and dysarthria that had appeared over a period of months. Exome sequencing identified a de novo missense variant in ATP1A3, the gene encoding the α3 subunit of Na,K-ATPase.
Kathleen J Sweadner, Camilo Toro, Christopher T Whitlow, Beverly M Snively, Jared F Cook, Laurie J Ozelius, Thomas C Markello, Allison Brashear   +7 more
doaj   +1 more source

In vitro study of ATP1A3 p.Ala275Pro mutant causing alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism

Frontiers in Neuroscience
IntroductionWe previously reported that ATP1A3 c.823G>C (p.Ala275Pro) mutant causes varying phenotypes of alternative hemiplegia of childhood and rapid-onset dystonia-parkinsonism in the same family.
Dan-dan Ruan, Jing Zou, Li-sheng Liao, Li-sheng Liao, Ming-dong Ji, Ruo-li Wang, Ruo-li Wang, Jian-hui Zhang, Li Zhang, Li Zhang, Mei-zhu Gao, Mei-zhu Gao, Qian Chen, Hong-ping Yu, Wen Wei, Yun-fei Li, Yun-fei Li, Hong Li, Fan Lin, Fan Lin, Jie-wei Luo, Xin-fu Lin, Xin-fu Lin   +22 more
doaj   +1 more source

COMPARATIVE IN SILICO ANALYSIS OF ATP1A3 GENE IN MAMMALS [PDF]

Exploratory Animal and Medical Research, 2018
Progress in the field of bioinformatics is useful to understand the global network of genes and their protein products. Genetic variants of the ATP1A3 gene have been suggested to be involved in the salt hypertension and feed intake, all of which may ...
Chinmoy Mishra, Siddhant Sekhar Sahoo, Sidharth Prasad Mishra, Stuti Tanaya Mohanty, Gangadhar Nayak, Kumaresh Behera, Kamdev Sethy   +6 more
doaj  

ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients. [PDF]

PLoS ONE, 2014
Alternating hemiplegia of childhood (AHC) is a rare and severe neurological disorder. ATP1A3 was recently identified as the causative gene. Here we report the first genetic study in Chinese AHC cohort.
Xiaoling Yang, Hua Gao, Jie Zhang, Xiaojing Xu, Xiaoyan Liu, Xiru Wu, Liping Wei, Yuehua Zhang   +7 more
doaj   +1 more source

Therapeutic Gene Editing of APOE4 in Sporadic Alzheimer's Disease via Prime Editor 7

Advanced Science, EarlyView.
Prime Editor 7‐mediated conversion of APOE4 to APOE3 alleviates Alzheimer's disease‐associated pathology in AD mouse models and patient‐derived neurons and improves cognitive performance in vivo, supporting therapeutic genome editing as a promising strategy for APOE4‐associated neurodegeneration.
Yunkyung Kim, Gaeun Lee, Saemin An, Hanseul Park, Hongwon Kim, Jisung Kim, Soi Kang, Sumin Kim, Daeyeol Kwon, Jeonghyun Park, Yerim Hwang, Seonghun Kim, Xiuwen Yuan, Jaehoon Jeong, Hamin Lee, Hui Kwon Kim, Jongpil Kim   +16 more
wiley   +1 more source

Phenotypic diversity from the same mutation: a family report on ATP1A3 gene mutation-related febrile-induced paroxysmal weakness and encephalopathy [PDF]

Linchuang erke zazhi
Objective Variations in the ATP1A3 gene are associated with a spectrum of neurological disorders, including fever-induced paroxysmal weakness and encephalopathy (FIPWE).
LI Juan, LIU Yong, JIN Ruifeng
doaj   +1 more source