Novel <i>VRK1</i> Mutations in a Patient with Childhood-onset Motor Neuron Disease-Reference-Cited by-同舟云学术

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Novel VRK1 Mutations in a Patient with Childhood-onset Motor Neuron Disease

Published:2019-09-15 Issue:18 Volume:58 Page:2715-2719
ISSN:0918-2918
Container-title:Internal Medicine
language:en
Short-container-title:Intern. Med.

Author:

Yamaura Genpei¹,Higashiyama Yuichi¹,Kusama Kaori¹,Kunii Misako¹,Tanaka Kenichi¹,Koyano Shigeru¹,Nakashima Mitsuko²³,Tsurusaki Yoshinori²,Miyake Noriko²,Saitsu Hirotomo²³,Iwahashi Yukiko¹,Joki Hideto¹,Matsumoto Naomichi²,Doi Hiroshi¹,Tanaka Fumiaki¹

Affiliation:

1. Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Japan

2. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan

3. Department of Biochemistry, Hamamatsu University School of Medicine, Japan

Publisher

Japanese Society of Internal Medicine

Subject

General Medicine,Internal Medicine

Link

https://www.jstage.jst.go.jp/article/internalmedicine/58/18/58_2126-18/_pdf

Reference13 articles.

1. 1. Finsterer J, Burgunder JM. Recent progress in the genetics of motor neuron disease. Eur J Med Genet 57: 103-112, 2014.

2. 2. Statland JM, Barohn RJ, McVey AL, Katz J, Dimachkie MM. Patterns of weakness, classification of motor neuron disease and clinical diagnosis of sporadic ALS. Neurol Clin 33: 735-748, 2015.

3. 3. De Jonghe P, Auer-Grumbach M, Irobi J, et al. Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder? Brain 125: 1320-1325, 2002.

4. 4. Renbaum P, Kellerman E, Jaron R, et al. Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene. Am J Hum Genet 85: 281-289, 2009.

5. 5. Nguyen TP, Biliciler S, Wiszniewski W, Sheikh K. Expanding phenotype of VRK1 mutations in motor neuron disease. J Clin Neuromuscul Dis 17: 69-71, 2015.

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1. Clinical and Genetic Aspects of Juvenile Amyotrophic Lateral Sclerosis: A Promising Era Emerges;Genes;2024-02-28

2. Behavioral and neurological effects of Vrk1 deficiency in zebrafish;Biochemical and Biophysical Research Communications;2023-10

3. VRK1 variants at the cross road of Cajal body neuropathogenic mechanisms in distal neuropathies and motor neuron diseases;Neurobiology of Disease;2023-07

4. The VRK1 chromatin kinase regulates the acetyltransferase activity of Tip60/KAT5 by sequential phosphorylations in response to DNA damage;Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms;2022-11

5. Distal spinal muscular atrophy featured by predominant calf muscle involvement in VRK1 associated disease – Case series and review;Neuromuscular Disorders;2022-06

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