ALS: A bucket of genes, environment, metabolism and unknown ingredients
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- 作者：Mó ; nica Zufirí ; aa ; b ; 1 ; Francisco Javier Gil-Beaa ; b ; i ; 1 ; Roberto Ferná ; ndez-Torró ; na ; b ; c ; d ; 1 ; Juan José ; Pozaa ; b ; c ; d ; Jose Luis Muñ ; oz-Blancoe ; Ricard Rojas-Garcí ; af ; g ; Javier Rianchob ; h ; Adolfo Ló ; pez de Munaina ; b ; c ; d ; j ; adolfo.lopezdemunainarregui@osakidetza.eus" class="auth_mail" title="E-mail the corresponding author
- 关键词：ALS ; amyotrophic lateral sclerosis ; ALSFRS ; ALS functional rating scale ; BMAA ; beta-N-methylamino-l-alanine ; CNS ; central nervous system ; CNTF ; ciliary neurotrophic factor ; CSF ; cerebrospinal fluid ; CX3CR1 ; CX3C chemokine receptor 1 ; EAAT2 ; excitatory amino acid transporter 2 ; ELP3 ; elongator complex protein 3 ; EPHA4 ; ephrin type-A receptor 4 ; ERBB4 ; erb-b2 receptor tyrosine kinase 4 ; EWSR ; ewing sarcoma breakpoint region ; FIG4 ; polyphosphoinositide phosphatase ; FUS ; fused in sarcoma ; GWAS ; geno
- 刊名：Progress in Neurobiology
- 出版年：2016
- 出版时间：July 2016
- 年：2016
- 卷：142
- 期：Complete
- 页码：104-129
- 全文大小：2116 K
文摘
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ALS: multiple pathogenic mechanisms that share TDP-43 deposits as common trait.
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Most of genes related to ALS are involved in RNA metabolism, endosome trafficking, autophagy and energy metabolism.
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C9ORF72 expansion plays a common role in sporadic and familiar ALS pathogenesis.
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ALS is a multi-system disease with important metabolic alterations.
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Genes, environment and toxins are key factors to unveil the enigma of motor neuron degeneration.