Literature DB >> 30311446

Compound heterozygote mutations in the SIGMAR1 gene in an oldest-old patient with amyotrophic lateral sclerosis.

Yuishin Izumi1, Hiroyuki Morino2, Ryosuke Miyamoto1,2, Yukiko Matsuda2, Ryosuke Ohsawa2, Takashi Kurashige3, Yoshimitsu Shimatani4, Ryuji Kaji1, Hideshi Kawakami2.   

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Year:  2018        PMID： 30311446     DOI： 10.1111/ggi.13506

Source DB:  PubMed          Journal:  Geriatr Gerontol Int        ISSN： 1447-0594            Impact factor:   2.730


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  6 in total

1.  Mutations in the SIGMAR1 gene cause a distal hereditary motor neuropathy phenotype mimicking ALS: Report of two novel variants.

Authors:  Maxwell T Ma; Dong-Hui Chen; Wendy H Raskind; Thomas D Bird
Journal:  Neuromuscul Disord       Date:  2020-05-23       Impact factor: 4.296

2.  Wildtype sigma-1 receptor and the receptor agonist improve ALS-associated mutation-induced insolubility and toxicity.

Authors:  Yasuharu Shinoda; Yudai Haga; Koichiro Akagawa; Kohji Fukunaga
Journal:  J Biol Chem       Date:  2020-10-14       Impact factor: 5.157

3.  Molecular Characterization of Skeletal Muscle Dysfunction in Sigma 1 Receptor (Sigmar1) Knockout Mice.

Authors:  Richa Aishwarya; Chowdhury S Abdullah; Naznin S Remex; Shafiul Alam; Mahboob Morshed; Sadia Nitu; Brandon Hartman; Judy King; Mohammad Alfrad Nobel Bhuiyan; A Wayne Orr; Christopher G Kevil; Md Shenuarin Bhuiyan
Journal:  Am J Pathol       Date:  2021-10-25       Impact factor: 4.307

4.  Wildtype σ1 receptor and the receptor agonist improve ALS-associated mutation-induced insolubility and toxicity.

Authors:  Yasuharu Shinoda; Yudai Haga; Koichiro Akagawa; Kohji Fukunaga
Journal:  J Biol Chem       Date:  2020-12-18       Impact factor: 5.157

Review 5.  Sigmar1's Molecular, Cellular, and Biological Functions in Regulating Cellular Pathophysiology.

Authors:  Richa Aishwarya; Chowdhury S Abdullah; Mahboob Morshed; Naznin Sultana Remex; Md Shenuarin Bhuiyan
Journal:  Front Physiol       Date:  2021-07-07       Impact factor: 4.566

6.  Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A>T missense mutation.

Authors:  Antonis Ververis; Rana Dajani; Pantelitsa Koutsou; Ahmad Aloqaily; Carol Nelson-Williams; Erin Loring; Ala Arafat; Ammar Fayez Mubaidin; Khalid Horany; Mai B Bader; Yaqoub Al-Baho; Bushra Ali; Abdurrahman Muhtaseb; Tyrone DeSpenza; Abdelkarim A Al-Qudah; Lefkos T Middleton; Eleni Zamba-Papanicolaou; Richard Lifton; Kyproula Christodoulou
Journal:  J Med Genet       Date:  2019-09-11       Impact factor: 6.318
  6 in total

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