Optineurin mutations in Japanese amyotrophic lateral sclerosis: Table 1

Iida, Aritoshi; Hosono, Naoya; Sano, Masaaki; Kamei, Tetsumasa; Oshima, Shuichi; Tokuda, Torao; Kubo, Michiaki; Nakamura, Yusuke; Ikegawa, Shiro

doi:10.1136/jnnp.2010.234963

Cited by 39 publications

(17 citation statements)

References 5 publications

(13 reference statements)

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“…24 Mutations in FUS also appear to occur at a higher frequency in Chinese and Korean cohorts, compared to Caucasians, with ALS 31 32. A similar pattern is also seen with OPTN mutations 33 34. Although there is heterogeneity in disease-causing genes in ALS from the different populations, the clinical phenotypes of the mutations do not tend to vary.…”

Section: Genetic Perspectivesmentioning

confidence: 82%

Amyotrophic lateral sclerosis and motor neuron syndromes in Asia

Shahrizaila

Sobue

Kuwabara

et al. 2016

J Neurol Neurosurg Psychiatry

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While the past 2 decades have witnessed an increasing understanding of amyotrophic lateral sclerosis (ALS) arising from East Asia, particularly Japan, South Korea, Taiwan and China, knowledge of ALS throughout the whole of Asia remains limited. Asia represents >50% of the world population, making it host to the largest patient cohort of ALS. Furthermore, Asia represents a diverse population in terms of ethnic, social and cultural backgrounds. In this review, an overview is presented that covers what is currently known of ALS in Asia from basic epidemiology and genetic influences, through to disease characteristics including atypical phenotypes which manifest a predilection for Asians. With the recent establishment of the Pan-Asian Consortium for Treatment and Research in ALS to facilitate collaborations between clinicians and researchers across the region, it is anticipated that Asia and the Pacific will contribute to unravelling the uncertainties in ALS.

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Section: Genetic Perspectivesmentioning

confidence: 82%

Amyotrophic lateral sclerosis and motor neuron syndromes in Asia

Shahrizaila

Sobue

Kuwabara

et al. 2016

J Neurol Neurosurg Psychiatry

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show abstract

“…Maruyama and colleagues reported both homozygous and heterozygous mutations in OPTN in ALS patients without POAG in two Japanese families, and a homozygous mutation in a patient with both ALS and POAG [1]. Three recent studies on European and Japanese population of ALS patients without POAG did not support the contribution of OPTN in ALS [3][4][5]. Thus, the relationship between ALS and mutations in the OPTN gene remains controversial.…”

Section: Introductionmentioning

confidence: 88%

“…Although it remains difficult to assess the frequency of OPTN mutation in ALS because of the small number of studies performed to date, it seems negligible (3/1379 sporadic ALS patients; 0.2%) [1,3,4].…”

Section: Contents Lists Available At Sciencedirectmentioning

confidence: 96%

Absence of the OPTN mutation in a patient with ALS and familial primary open angle glaucoma

Corcia

Praline

Guennoc

et al. 2011

Journal of the Neurological Sciences

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“…Alterations in autophagic genes UBQLN2, p62/SQSTM1, OPTN, VCP, CHMP2B, and FIG4 proteins is also linked with ALS, and in some cases frontotemporal dementia ( FTD). These ubiquilin protein) [61][62][63], SQSTM1 (coding for p62/SQSTM1 protein) [64][65][66], OPTN (coding for optineurin protein, OPTN) [67][68][69][70] and VCP (coding Valosincontaining protein, VCP) [71] that are directly involved in protein degradation, and in CHMP2B (coding for charged multivesicular body protein 2B, or chromatinmodifying 2B, CHMP2B) [72,73] and FIG4 (coding for FIG4 protein) [74] that are required for autophagosome maturation. UBQLN2 is a protein that transports polyubiquinated proteins to the degradation processes by proteasome and autophagy; and ALS-linked mutations in this gene may impair overall protein degradation [61].…”

Section: Genetic Alterations To the Autophagy Pathway In Alsmentioning

confidence: 99%

Dual Role of Autophagy in Neurodegenerative Diseases: The Case of Amyotrophic Lateral Sclerosis

Bargsted

Vidal

Hetz

et al. 2015

Current Topics in Neurotoxicity

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Amyotrophic lateral sclerosis (ALS) is an adult onset and fatal neurodegenerative disease. A major histophatological hallmark of the disease patient-derived tissue and ALS mouse models is the presence of protein aggregates containing misfolded specific proteins. Strategies to clear out these abnormal protein species are proposed as a possible target for disease intervention. Autophagy, a catabolic route that selective degradates abnormally-folded proteins by the lysosomal pathway, has emerged as an attractive target to treat neurodegenerative diseases, like ALS. Accumulating evidence indicates that autophagy impairment also occurs in ALS and can contribute to the neurodegenerative condition. In this article we discuss the evidence involving autophagy alteration associated to ALS phenotype and the evidence that place autophagy as a therapeutic opportunity to treat this neurodegenerative disease.

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Optineurin mutations in Japanese amyotrophic lateral sclerosis: Table 1

Cited by 39 publications

References 5 publications

Amyotrophic lateral sclerosis and motor neuron syndromes in Asia

Amyotrophic lateral sclerosis and motor neuron syndromes in Asia

Absence of the OPTN mutation in a patient with ALS and familial primary open angle glaucoma

Dual Role of Autophagy in Neurodegenerative Diseases: The Case of Amyotrophic Lateral Sclerosis

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