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注意：仅列出部分参考文献，下载原文获取全部文献信息。A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene
Thomas W. Prior et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Regulation of SMN Protein Stability
Barrington G. Burnett et al.
MOLECULAR AND CELLULAR BIOLOGY (2009)
Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?
Arthur H. M. Burghes et al.
NATURE REVIEWS NEUROSCIENCE (2009)
A short antisense oligonucleotide masking a unique intronic motif prevents skipping of a critical exon in spinal muscular atrophy
Natalia N. Singh et al.
RNA BIOLOGY (2009)
SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing
Zhenxi Zhang et al.
CELL (2008)
Identification of a battery of tests for drug candidate evaluation in the SMNΔ7 neonate model of spinal muscular atrophy
Bassern F. El-Khodor et al.
EXPERIMENTAL NEUROLOGY (2008)
Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy
Shingo Kariya et al.
HUMAN MOLECULAR GENETICS (2008)
Embryonic motor axon development in the severe SMA mouse
Vicki L. McGovern et al.
HUMAN MOLECULAR GENETICS (2008)
Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy
Gabriela E. Oprea et al.
SCIENCE (2008)
Ribonucleoprotein Assembly Defects Correlate with Spinal Muscular Atrophy Severity and Preferentially Affect a Subset of Spliceosomal snRNPs
Francesca Gabanella et al.
PLOS ONE (2007)
Deficiency of the zinc finger protein ZPR1 causes defects in transcription and cell cycle progression
Laxman Gangwani
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
Deficiency of the zinc finger protein ZPR1 causes neurodegeneration
Beth Doran et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)
ZPR1 is essential for survival and is required for localization of the survival motor neurons (SMN) protein to Cajal bodies
L Gangwani et al.
MOLECULAR AND CELLULAR BIOLOGY (2005)
SMNΔ7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN
TT Le et al.
HUMAN MOLECULAR GENETICS (2005)
Axonal neuregulin-1 regulates myelin sheath thickness
GV Michailov et al.
SCIENCE (2004)
Evidence for a modifying pathway in SMA discordant families:: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1
C Helmken et al.
HUMAN GENETICS (2003)
Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of β-actin mRNA in growth cones of motoneurons
W Rossoll et al.
JOURNAL OF CELL BIOLOGY (2003)
Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding
ML McWhorter et al.
JOURNAL OF CELL BIOLOGY (2003)
Classical infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathy
S Rudnik-Schöneborn et al.
NEUROLOGY (2003)
Essential role for the SMN complex in the specificity of snRNP assembly
L Pellizzoni et al.
SCIENCE (2002)
Cajal bodies and coilin - moving towards function
SC Ogg et al.
JOURNAL OF CELL BIOLOGY (2002)
SMN, the spinal muscular atrophy protein, forms a pre-import snRNP complex with snurportin1 and importin β
U Narayanan et al.
HUMAN MOLECULAR GENETICS (2002)
Spinal muscular atrophy disrupts the interaction of ZPR1 with the SMN protein
L Gangwani et al.
NATURE CELL BIOLOGY (2001)
Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy
T Frugier et al.
HUMAN MOLECULAR GENETICS (2000)
Reduced survival motor neuron (Smn) gene dose in mice leads to motor neuron degeneration:: an animal model for spinal muscular atrophy type III
S Jablonka et al.
HUMAN MOLECULAR GENETICS (2000)
The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn-/- mice and results in a mouse with spinal muscular atrophy
UR Monani et al.
HUMAN MOLECULAR GENETICS (2000)
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