Loss of ERLIN2 function leads to juvenile primary lateral sclerosis.

Al-Saif, Amr; Bohlega, Saeed; Al-Mohanna, Futwan

Al-Saif, Amr; Bohlega, Saeed; Al-Mohanna, Futwan.

Affiliation

Al-Saif A; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. amr@kfshrc.edu.sa

Ann Neurol ; 72(4): 510-6, 2012 Oct.

Article in En | MEDLINE | ID: mdl-23109145

Subject(s)

Membrane Proteins/genetics; Membrane Proteins/physiology; Motor Neuron Disease/genetics; Adolescent; Cell Count; Cells, Cultured; Child; Child, Preschool; Chromosome Mapping; Chromosomes, Human, Pair 8/genetics; DNA/genetics; DNA/isolation & purification; Endoplasmic Reticulum-Associated Degradation/genetics; Endoplasmic Reticulum-Associated Degradation/physiology; Female; Humans; Hydroxymethylglutaryl-CoA-Reductases, NADP-dependent/metabolism; Infant; Inositol 1,4,5-Trisphosphate Receptors/metabolism; Male; RNA Interference/physiology; RNA Splice Sites/genetics; RNA, Messenger/biosynthesis; RNA, Messenger/genetics; Real-Time Polymerase Chain Reaction; Signal Transduction/genetics; Signal Transduction/physiology; Transfection

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Full text: 1 Database: MEDLINE Main subject: Motor Neuron Disease / Membrane Proteins Limits: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Language: En Year: 2012 Type: Article

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