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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。Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene
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SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing
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Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect
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A two-site ELISA can quantify upregulation of SMN protein by drugs for spinal muscular atrophy
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A SMNΔ7 read-through product confers functionality to the SMNΔ7 protein
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NEUROSCIENCE LETTERS (2008)
Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy
Gabriela E. Oprea et al.
SCIENCE (2008)
Defective Ca2+ channel clustering in axon terminals disturbs excitability in motoneurons in spinal muscular atrophy
Sibylle Jablonka et al.
JOURNAL OF CELL BIOLOGY (2007)
Ribonucleoprotein Assembly Defects Correlate with Spinal Muscular Atrophy Severity and Preferentially Affect a Subset of Spliceosomal snRNPs
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QNQKE targeting motif for the SMN-Gemin multiprotein complex in neurons
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JOURNAL OF NEUROSCIENCE RESEARCH (2007)
Spinal muscular atrophy diagnostics
Thomas W. Prior
JOURNAL OF CHILD NEUROLOGY (2007)
Chaperoning ribonucleoprotein biogenesis in health and disease
Livio Pellizzoni
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A comprehensive interaction map of the human survival of motor neuron (SMN) complex
Simon Otter et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
Gemin8 is required for the architecture and function of the survival motor neuron complex
Claudia Carissimi et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis
Tessa L. Carrel et al.
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Multiprotein complexes of the survival of motor neuron protein SMN with Gemins traffic to neuronal processes and growth cones of motor neurons
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The activity of the spinal muscular atrophy protein is regulated during development and cellular differentiation
F Gabanella et al.
HUMAN MOLECULAR GENETICS (2005)
Gemin proteins are required for efficient assembly of Sm-class ribonucleoproteins
KB Shpargel et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
Reduced U snRNP assembly causes motor axon degeneration in an animal model for spinal muscular atrophy
C Winkler et al.
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A role for complexes of survival of motor neurons (SNM) protein with gemins and profilin in neurite-like cytoplasmic extensions of cultured nerve cells
A Sharma et al.
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The survival of motor neurons protein determines the capacity for snRNP assembly: Biochemical deficiency in spinal muscular atrophy
LL Wan et al.
MOLECULAR AND CELLULAR BIOLOGY (2005)
Towards a model to explain the intragenic complementation in the heteromultimeric protein propionyl-CoA carboxylase
P Rodríguez-Pombo et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (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)
Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy
Y Sun et al.
HUMAN MUTATION (2005)
Detection of novel mutations in the SMN Tudor domain in type ISMA patients
I Cuscó et al.
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Deletion of murine Smn Exon 7 directed to liver leads to severe defect of liver development associated with iron overload
JM Vitte et al.
AMERICAN JOURNAL OF PATHOLOGY (2004)
Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations
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HUMAN MUTATION (2004)
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
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JOURNAL OF CELL BIOLOGY (2003)
A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy
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NATURE GENETICS (2003)
A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy
UR Monani et al.
JOURNAL OF CELL BIOLOGY (2003)
Essential role for the SMN complex in the specificity of snRNP assembly
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SCIENCE (2002)
Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1
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NATURE GENETICS (2002)
Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: a role for Smn in RNA processing in motor axons?
W Rossoll et al.
HUMAN MOLECULAR GENETICS (2002)
A multiprotein complex mediates the ATP-dependent assembly of spliceosomal U snRNPs
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NATURE CELL BIOLOGY (2001)
Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy
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The exon 2b region of the spinal muscular atrophy protein, SMN, is involved in self-association and SIP1 binding
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Intragenic complementation and the structure and function of argininosuccinate lyase
B Yu et al.
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Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy
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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
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An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN
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HUMAN MOLECULAR GENETICS (2000)
A mouse model for spinal muscular atrophy
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NATURE GENETICS (2000)
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