Implication of fetal SMN2 expression in type I SMA pathogenesis: protection or pathological gain of function?

Soler-Botija, Carolina

Implication of fetal SMN2 expression in type I SMA pathogenesis: protection or pathological gain of function? [electronic resource] - Journal of neuropathology and experimental neurology Mar 2005 - 215-23 p. digital

Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't

0022-3069

10.1093/jnen/64.3.215 doi


Age Factors
Alternative Splicing
Blotting, Western--methods
Cyclic AMP Response Element-Binding Protein--genetics
Densitometry--methods
Exons
Female
Fibroblasts--metabolism
Gene Expression--genetics
Gene Expression Regulation, Developmental--genetics
Humans
Immunohistochemistry--methods
Kidney--metabolism
Male
Muscles--cytology
Muscular Atrophy, Spinal--metabolism
Nerve Tissue Proteins--genetics
Pregnancy
RNA, Messenger--biosynthesis
RNA-Binding Proteins--genetics
Reverse Transcriptase Polymerase Chain Reaction--methods
SMN Complex Proteins
Survival of Motor Neuron 1 Protein
Survival of Motor Neuron 2 Protein
alpha-Fetoproteins