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2014 4
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Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons.
Shi Y, Lin S, Staats KA, Li Y, Chang WH, Hung ST, Hendricks E, Linares GR, Wang Y, Son EY, Wen X, Kisler K, Wilkinson B, Menendez L, Sugawara T, Woolwine P, Huang M, Cowan MJ, Ge B, Koutsodendris N, Sandor KP, Komberg J, Vangoor VR, Senthilkumar K, Hennes V, Seah C, Nelson AR, Cheng TY, Lee SJ, August PR, Chen JA, Wisniewski N, Hanson-Smith V, Belgard TG, Zhang A, Coba M, Grunseich C, Ward ME, van den Berg LH, Pasterkamp RJ, Trotti D, Zlokovic BV, Ichida JK. Shi Y, et al. Nat Med. 2018 Mar;24(3):313-325. doi: 10.1038/nm.4490. Epub 2018 Feb 5. Nat Med. 2018. PMID: 29400714 Free PMC article.
Thus, modulating vesicle trafficking was able to rescue neurodegeneration caused by the C9ORF72 repeat expansion. Coupled with rare mutations in ALS2, FIG4, CHMP2B, OPTN and SQSTM1, our results reveal mechanistic convergence on vesicle trafficking in ALS and FTD....
Thus, modulating vesicle trafficking was able to rescue neurodegeneration caused by the C9ORF72 repeat expansion. Coupled with rare mutation …
Juvenile Amyotrophic Lateral Sclerosis: A Review.
Lehky T, Grunseich C. Lehky T, et al. Genes (Basel). 2021 Nov 30;12(12):1935. doi: 10.3390/genes12121935. Genes (Basel). 2021. PMID: 34946884 Free PMC article. Review.
Results of the literature review show that the most common gene mutations associated with JALS are FUS, SETX, and ALS2. In familial cases, the gene mutations are mostly inherited in an autosomal recessive pattern and mutations in SETX are inherited in an autosomal dominant …
Results of the literature review show that the most common gene mutations associated with JALS are FUS, SETX, and ALS2. In familial c …
Rab5 activation on macropinosomes requires ALS2, and subsequent Rab5 inactivation through ALS2 detachment requires active Rab7.
Morishita S, Wada N, Fukuda M, Nakamura T. Morishita S, et al. FEBS Lett. 2019 Jan;593(2):230-241. doi: 10.1002/1873-3468.13306. Epub 2018 Dec 7. FEBS Lett. 2019. PMID: 30485418 Free article.
Rab5 is activated and concurrently recruited to macropinosomes during ruffle closure. ALS2 depletion abolishes transient Rab5 activation on macropinosomes, while ALS2 is recruited to macropinosomes simultaneously with Rab5 activation. Thus, we conclude ALS2 a …
Rab5 is activated and concurrently recruited to macropinosomes during ruffle closure. ALS2 depletion abolishes transient Rab5 activat …
The N-terminal intrinsically disordered region mediates intracellular localization and self-oligomerization of ALS2.
Shimakura K, Sato K, Mitsui S, Ono S, Otomo A, Hadano S. Shimakura K, et al. Biochem Biophys Res Commun. 2021 Sep 10;569:106-111. doi: 10.1016/j.bbrc.2021.06.095. Epub 2021 Jul 6. Biochem Biophys Res Commun. 2021. PMID: 34243065
Previously, we have reported that the N-terminal region of ALS2 has crucial roles in its endosomal localization and self-oligomerization, both of which are indispensable for the cellular function of ALS2. ...Moreover, IDR-deleted ALS2 mutant formed an abnorma …
Previously, we have reported that the N-terminal region of ALS2 has crucial roles in its endosomal localization and self-oligomerizat …
Investigating the expression of ALS2 and ALS9 genes along with allele frequency of ALS9 in patients with vulvovaginal candidiasis.
Razavi T, Falahati M, Teimourian S, Farahyar S, Babaei V, Majdabadi N, Iraji E. Razavi T, et al. Infect Genet Evol. 2020 Aug;82:104253. doi: 10.1016/j.meegid.2020.104253. Epub 2020 Feb 18. Infect Genet Evol. 2020. PMID: 32084624
RESULTS: Results showed an increase in ALS2 gene expression and a decrease in ALS9 gene expression, comparing to basic level and standard sample. 42.5% (51 of total 120 samples) contained the small allele. CONCLUSIONS: The significant difference in expression rates of A …
RESULTS: Results showed an increase in ALS2 gene expression and a decrease in ALS9 gene expression, comparing to basic level and stan …
Genetic landscape of ALS in Malta based on a quinquennial analysis.
Farrugia Wismayer M, Farrugia Wismayer A, Borg R, Bonavia K, Abela A, Chircop C, Aquilina J, Soler D, Pace A, Vella M, Vassallo N, Cauchi RJ. Farrugia Wismayer M, et al. Neurobiol Aging. 2023 Mar;123:200-207. doi: 10.1016/j.neurobiolaging.2022.11.011. Epub 2022 Nov 23. Neurobiol Aging. 2023. PMID: 36549973 Free article.
Potentially damaging variants or repeat expansions were identified in more than 45% of all patients. The most commonly affected genes were ALS2, DAO, SETX and SPG11, an infrequent cause of ALS in Europeans. ...
Potentially damaging variants or repeat expansions were identified in more than 45% of all patients. The most commonly affected genes were …
Personalized Treatment for Infantile Ascending Hereditary Spastic Paralysis Based on In Silico Strategies.
Rossi Sebastiano M, Ermondi G, Sato K, Otomo A, Hadano S, Caron G. Rossi Sebastiano M, et al. Molecules. 2022 Oct 19;27(20):7063. doi: 10.3390/molecules27207063. Molecules. 2022. PMID: 36296656 Free PMC article.
It is transmitted with a recessive pattern and originates from mutations of the ALS2 gene, encoding for the protein alsin and involved in differentiation and maintenance of the upper motoneuron. ...The C-terminal VPS9 domain is a key interaction site for alsin …
It is transmitted with a recessive pattern and originates from mutations of the ALS2 gene, encoding for the protein alsin and …
Dystonia: an update on phenomenology, classification, pathogenesis and treatment.
Balint B, Bhatia KP. Balint B, et al. Curr Opin Neurol. 2014 Aug;27(4):468-76. doi: 10.1097/WCO.0000000000000114. Curr Opin Neurol. 2014. PMID: 24978640 Review.
Clinical and genetic heterogeneity underlie myoclonus-dystonia, dopa-responsive dystonia and deafness-dystonia syndrome. ALS2 gene mutations are a newly recognized cause for combined dystonia. ...
Clinical and genetic heterogeneity underlie myoclonus-dystonia, dopa-responsive dystonia and deafness-dystonia syndrome. ALS2 gene mu …
The RabGEF ALS2 is a hypoxia inducible target associated with the acquisition of aggressive traits in tumor cells.
Rivas S, Silva P, Reyes M, Sepúlveda H, Solano L, Acuña J, Guerrero M, Varas-Godoy M, Quest AFG, Montecino M, Torres VA. Rivas S, et al. Sci Rep. 2020 Dec 18;10(1):22302. doi: 10.1038/s41598-020-79270-6. Sci Rep. 2020. PMID: 33339852 Free PMC article.
Specifically, hypoxia augmented ALS2 mRNA and protein levels, and these events involved HIF-1alpha-dependent transcription, as shown by RNAi, pharmacological inhibition, chromatin immunoprecipitation and bioinformatics analyses, which identified a functional HIF-1alpha-bin …
Specifically, hypoxia augmented ALS2 mRNA and protein levels, and these events involved HIF-1alpha-dependent transcription, as shown …
Genotype-phenotype correlation in seven motor neuron disease families with novel ALS2 mutations.
Sprute R, Jergas H, Ölmez A, Alawbathani S, Karasoy H, Dafsari HS, Becker K, Daimagüler HS, Nürnberg P, Muntoni F, Topaloglu H, Uyanik G, Cirak S. Sprute R, et al. Am J Med Genet A. 2021 Feb;185(2):344-354. doi: 10.1002/ajmg.a.61951. Epub 2020 Nov 5. Am J Med Genet A. 2021. PMID: 33155358
Autosomal-recessive mutations in the Alsin Rho guanine nucleotide exchange factor (ALS2) gene may cause specific subtypes of childhood-onset progressive neurodegenerative motor neuron diseases (MND). ...Frameshift and nonsense mutations clustered in the N-terminal …
Autosomal-recessive mutations in the Alsin Rho guanine nucleotide exchange factor (ALS2) gene may cause specific subtypes of c …
43 results