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Literature DB >> 18394004

First case of compound heterozygosity in ALS2 gene in infantile-onset ascending spastic paralysis with bulbar involvement.

L Sztriha, C Panzeri, R Kálmánchey, N Szabó, E Endreffy, S Túri, C Baschirotto, N Bresolin, Z Vekerdy, M T Bassi.

Abstract

Entities: Disease Gene Mutation

Mesh：

Substances：

Year: 2008 PMID： 18394004 DOI： 10.1111/j.1399-0004.2008.00993.x

Source DB: PubMed Journal: Clin Genet ISSN： 0009-9163 Impact factor: 4.438

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7 in total

1. Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant.

Authors: Mayada Helal; Neda Mazaheri; Bita Shalbafan; Reza Azizi Malamiri; Nafi Dilaver; Rebecca Buchert; Javad Mohammadiasl; Neda Golchin; Alireza Sedaghat; Mohammad Yahya Vahidi Mehrjardi; Tobias B Haack; Olaf Riess; Wendy K Chung; Hamid Galehdari; Gholamreza Shariati; Reza Maroofian
Journal: Neurol Sci Date: 2018-08-21 Impact factor: 3.307

2. Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9-2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP).

Authors: Thilo Herzfeld; Nicole Wolf; Pia Winter; Holger Hackstein; Daniel Vater; Ulrich Müller
Journal: Neurogenetics Date: 2008-09-23 Impact factor: 2.660

3. Loss of ALS2/Alsin exacerbates motor dysfunction in a SOD1-expressing mouse ALS model by disturbing endolysosomal trafficking.

Authors: Shinji Hadano; Asako Otomo; Ryota Kunita; Kyoko Suzuki-Utsunomiya; Akira Akatsuka; Masato Koike; Masashi Aoki; Yasuo Uchiyama; Yasuto Itoyama; Joh-E Ikeda
Journal: PLoS One Date: 2010-03-22 Impact factor: 3.240

4. Altered oligomeric states in pathogenic ALS2 variants associated with juvenile motor neuron diseases cause loss of ALS2-mediated endosomal function.

Authors: Kai Sato; Asako Otomo; Mahoko Takahashi Ueda; Yui Hiratsuka; Kyoko Suzuki-Utsunomiya; Junya Sugiyama; Shuji Murakoshi; Shun Mitsui; Suzuka Ono; So Nakagawa; Hui-Fang Shang; Shinji Hadano
Journal: J Biol Chem Date: 2018-09-17 Impact factor: 5.157

First case of compound heterozygosity in ALS2 gene in infantile-onset ascending spastic paralysis with bulbar involvement.

1. Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant.

2. Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9-2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP).

3. Loss of ALS2/Alsin exacerbates motor dysfunction in a SOD1-expressing mouse ALS model by disturbing endolysosomal trafficking.

4. Altered oligomeric states in pathogenic ALS2 variants associated with juvenile motor neuron diseases cause loss of ALS2-mediated endosomal function.

5. Alsin related disorders: literature review and case study with novel mutations.

Review 6. The emerging role of guanine nucleotide exchange factors in ALS and other neurodegenerative diseases.

Review 7. ALS2-Related Motor Neuron Diseases: From Symptoms to Molecules.