相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns
Thomas Koed Doktor et al.
NUCLEIC ACIDS RESEARCH (2017)
Nusinersen, an antisense oligonucleotide drug for spinal muscular atrophy
David R. Corey
NATURE NEUROSCIENCE (2017)
Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy
Penelope J. Boyd et al.
PLOS GENETICS (2017)
Diverse role of survival motor neuron protein
Ravindra N. Singh et al.
BIOCHIMICA ET BIOPHYSICA ACTA-GENE REGULATORY MECHANISMS (2017)
Plastin 3 is upregulated in iPSC-derived motoneurons from asymptomatic SMN1-deleted individuals
Ludwig Heesen et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2016)
Selective loss of alpha motor neurons with sparing of gamma motor neurons and spinal cord cholinergic neurons in a mouse model of spinal muscular atrophy
Rachael A. Powis et al.
JOURNAL OF ANATOMY (2016)
SMN and symmetric arginine dimethylation of RNA polymerase II C-terminal domain control termination
Dorothy Yanling Zhao et al.
NATURE (2016)
The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype
Seyyedmohsen Hosseinibarkooie et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
Norbin Stimulates the Catalytic Activity and Plasma Membrane Localization of the Guanine-Nucleotide Exchange Factor P-Rex1
Dingxin Pan et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2016)
Deficiency of the Survival of Motor Neuron Protein Impairs mRNA Localization and Local Translation in the Growth Cone of Motor Neurons
Claudia Fallini et al.
JOURNAL OF NEUROSCIENCE (2016)
Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study
Richard S. Finkel et al.
LANCET (2016)
2016 update of the PRIDE database and its related tools (vol 44, pg D447, 2016)
Juan Antonio Vizcaino et al.
NUCLEIC ACIDS RESEARCH (2016)
Decreased function of survival motor neuron protein impairs endocytic pathways
Maria Dimitriadi et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2016)
Rab5 and its effector FHF contribute to neuronal polarity through dynein-dependent retrieval of somatodendritic proteins from the axon
Xiaoli Guo et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2016)
α-COP binding to the survival motor neuron protein SMN is required for neuronal process outgrowth
Hongxia Li et al.
HUMAN MOLECULAR GENETICS (2015)
Novel Mutations in the DYNC1H1 Tail Domain Refine the Genetic and Clinical Spectrum of Dyneinopathies
Kristien Peeters et al.
HUMAN MUTATION (2015)
Disease Mechanisms and Therapeutic Approaches in Spinal Muscular Atrophy
Sarah Tisdale et al.
JOURNAL OF NEUROSCIENCE (2015)
Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy
Mariacristina Scoto et al.
NEUROLOGY (2015)
SmD1 Modulates the miRNA Pathway Independently of Its Pre-mRNA Splicing Function
Xiao-Peng Xiong et al.
PLOS GENETICS (2015)
Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2
Alexander M. Rossor et al.
BRAIN (2015)
Dynamics of Survival of Motor Neuron (SMN) Protein Interaction with the mRNA-Binding Protein IMP1 Facilitates Its Trafficking into Motor Neuron Axons
Claudia Fallini et al.
DEVELOPMENTAL NEUROBIOLOGY (2014)
Modulation of alternative splicing by expression of small nuclear ribonucleoprotein polypeptide N
Moon-Sing Lee et al.
FEBS JOURNAL (2014)
Time-resolved quantitative proteomics implicates the core snRNP protein SmB together with SMN in neural trafficking
Alan R. Prescott et al.
JOURNAL OF CELL SCIENCE (2014)
Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophy
Thomas M. Wishart et al.
JOURNAL OF CLINICAL INVESTIGATION (2014)
Dominant spinal muscular atrophy due to BICD2: a novel mutation refines the phenotype
Matthis Synofzik et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2014)
Splicing changes in SMA mouse motoneurons and SMN-depleted neuroblastoma cells: Evidence for involvement of splicing regulatory proteins
Qing Huo et al.
RNA BIOLOGY (2014)
SMN control of RNP assembly: From post-transcriptional gene regulation to motor neuron disease
Darrick K. Li et al.
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY (2014)
Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia
Emily C. Oates et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Molecular Defects in the Motor Adaptor BICD2 Cause Proximal Spinal Muscular Atrophy with Autosomal-Dominant Inheritance
Kristien Peeters et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy
Kornelia Neveling et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Small nuclear RNAs and mRNAs: linking RNA processing and transport to spinal muscular atrophy
Judith Sleeman
BIOCHEMICAL SOCIETY TRANSACTIONS (2013)
Dilysine motifs in exon 2b of SMN protein mediate binding to the COPI vesicle protein -COP and neurite outgrowth in a cell culture model of spinal muscular atrophy
Sara K. Custer et al.
HUMAN MOLECULAR GENETICS (2013)
ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN
Ewout J. N. Groen et al.
HUMAN MOLECULAR GENETICS (2013)
In Silico Screening for Palmitoyl Substrates Reveals a Role for DHHC1/3/10 (zDHHC1/3/11)-mediated Neurochondrin Palmitoylation in Its Targeting to Rab5-positive Endosomes
Shinichiro Oku et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2013)
FoxO3a Negatively Regulates Nerve Growth Factor-Induced Neuronal Differentiation Through Inhibiting the Expression of Neurochondrin in PC12 Cells
Haitao Wang et al.
MOLECULAR NEUROBIOLOGY (2013)
The Central Dogma Decentralized: New Perspectives on RNA Function and Local Translation in Neurons
Christine E. Holt et al.
NEURON (2013)
Implication of the SMN complex in the biogenesis and steady state level of the Signal Recognition Particle
Nathalie Piazzon et al.
NUCLEIC ACIDS RESEARCH (2013)
SMN Is Essential for the Biogenesis of U7 Small Nuclear Ribonucleoprotein and 3′-End Formation of Histone mRNAs
Sarah Tisdale et al.
CELL REPORTS (2013)
An SMN-Dependent U12 Splicing Event Essential for Motor Circuit Function
Francesco Lotti et al.
CELL (2012)
Changes in intranuclear mobility of mature snRNPs provide a mechanism for splicing defects in spinal muscular atrophy
Allyson Kara Clelland et al.
JOURNAL OF CELL SCIENCE (2012)
Survival Motor Neuron Affects Plastin 3 Protein Levels Leading to Motor Defects
Le T. Hao et al.
JOURNAL OF NEUROSCIENCE (2012)
Fiji: an open-source platform for biological-image analysis
Johannes Schindelin et al.
NATURE METHODS (2012)
A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance
Yoshinori Tsurusaki et al.
NEUROGENETICS (2012)
Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy
M. B. Harms et al.
NEUROLOGY (2012)
The Spinal Muscular Atrophy Disease Protein SMN Is Linked to the Golgi Network
Chen-Hung Ting et al.
PLOS ONE (2012)
Purification of the Human SMN-GEMIN2 Complex and Assessment of Its Stimulation of RAD51-Mediated DNA Recombination Reactions
Motoki Takaku et al.
BIOCHEMISTRY (2011)
SMN Deficiency Reduces Cellular Ability to Form Stress Granules, Sensitizing Cells to Stress
Tie Zou et al.
CELLULAR AND MOLECULAR NEUROBIOLOGY (2011)
The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy
James N. Sleigh et al.
DISEASE MODELS & MECHANISMS (2011)
Mechanisms of dendritic mRNA transport and its role in synaptic tagging
Michael Doyle et al.
EMBO JOURNAL (2011)
Impaired minor tri-snRNP assembly generates differential splicing defects of U12-type introns in lymphoblasts derived from a type I SMA patient
Nawal Boulisfane et al.
HUMAN MOLECULAR GENETICS (2011)
The COPI vesicle complex binds and moves with survival motor neuron within axons
Cyril Jayakumar Peter et al.
HUMAN MOLECULAR GENETICS (2011)
The spinal muscular atrophy disease protein SMN is linked to the rho-kinase pathway via profilin
Anna Noelle et al.
HUMAN MOLECULAR GENETICS (2011)
The Survival of Motor Neuron (SMN) Protein Interacts with the mRNA-Binding Protein HuD and Regulates Localization of Poly(A) mRNA in Primary Motor Neuron Axons
Claudia Fallini et al.
JOURNAL OF NEUROSCIENCE (2011)
Interaction of survival of motor neuron (SMN) and HuD proteins with mRNA cpg15 rescues motor neuron axonal deficits
Bikem Akten et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
Antisense Oligonucleotides Delivered to the Mouse CNS Ameliorate Symptoms of Severe Spinal Muscular Atrophy
Marco A. Passini et al.
SCIENCE TRANSLATIONAL MEDICINE (2011)
Analysis of SMN-neurite granules: Core Cajal body components are absent from SMN-cytoplasmic complexes
Adrian G. Todd et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2010)
Sm proteins specify germ cell fate by facilitating oskar mRNA localization
Graydon B. Gonsalvez et al.
DEVELOPMENT (2010)
SMN, Gemin2 and Gemin3 Associate with β-Actin mRNA in the Cytoplasm of Neuronal Cells In Vitro
Adrian G. Todd et al.
JOURNAL OF MOLECULAR BIOLOGY (2010)
Dominant spinal muscular atrophy with lower extremity predominance Linkage to 14q32
M. B. Harms et al.
NEUROLOGY (2010)
Norbin Is an Endogenous Regulator of Metabotropic Glutamate Receptor 5 Signaling
Hong Wang et al.
SCIENCE (2009)
The SMN Protein is a Key Regulator of Nuclear Architecture in Differentiating Neuroblastoma Cells
Allyson K. Clelland et al.
TRAFFIC (2009)
SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing
Zhenxi Zhang et al.
CELL (2008)
Genetic and Biochemical Analysis of Yeast and Human Cap Trimethylguanosine Synthase FUNCTIONAL OVERLAP OF 2,2,7-TRIMETHYLGUANOSINE CAPS, SMALL NUCLEAR RIBONUCLEOPROTEIN COMPONENTS, PRE-mRNA SPLICING FACTORS, AND RNA DECAY PATHWAYS
Stephane Hausmann et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2008)
Identifying specific protein interaction partners using quantitative mass spectrometry and bead proteomes
Laura Trinkle-Mulcahy et al.
JOURNAL OF CELL BIOLOGY (2008)
Spatial control of branching within dendritic arbors by dynein-dependent transport of Rab5-endosomes
Daisuke Satoh et al.
NATURE CELL BIOLOGY (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)
Systematic analysis of the protein interaction network for the human transcription machinery reveals the identity of the 7SK capping enzyme
Celia Jeronimo et al.
MOLECULAR CELL (2007)
Smn depletion alters profilin II expression and leads to upregulation of the RhoA/ROCK pathway and defects in neuronal integrity
Melissa Bowerman et al.
JOURNAL OF MOLECULAR NEUROSCIENCE (2007)
Interaction of neurochondrin with the melanin-concentrating hormone receptor 1 interferes with G protein-coupled signal transduction but not agonist-mediated internalization
Felix Francke et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
Multiprotein complexes of the survival of motor neuron protein SMN with Gemins traffic to neuronal processes and growth cones of motor neurons
Honglai Zhang et al.
JOURNAL OF NEUROSCIENCE (2006)
Distinct domains of the spinal muscular atrophy protein SMN are required for targeting to Cajal bodies in mammalian cells
B Renvoisé et al.
JOURNAL OF CELL SCIENCE (2006)
Spinal muscular atrophy: A deficiency in a ubiquitous protein; a motor neuron-specific disease
UR Monani
NEURON (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)
Toward an assembly line for U7 snRNPs -: Interactions of U7-specific Lsm proteins with PRMT5 and SMN complexes
TN Azzouz et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
Reduced U snRNP assembly causes motor axon degeneration in an animal model for spinal muscular atrophy
C Winkler et al.
GENES & DEVELOPMENT (2005)
The U11/U12 snRNP 65K protein acts as a molecular bridge, binding the U12 snRNA and U11-59K protein
H Benecke et al.
EMBO JOURNAL (2005)
Rab7 associates with early endosomes to mediate sorting and transport of semliki forest virus to late endosomes
A Vonderheit et al.
PLOS BIOLOGY (2005)
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)
Neurochondrin negatively regulates CaMKII phosphorylation, and nervous system-specific gene disruption results in epileptic seizure
M Dateki et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (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)
Survival motor neuron (SMN) protein interacts with transcription corepressor mSin3A
JH Zou et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Survival motor neuron protein facilitates assembly of stress granules
YM Hua et al.
FEBS LETTERS (2004)
Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2
TW Prior et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (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)
A statistical model for identifying proteins by tandem mass spectrometry
AI Nesvizhskii et al.
ANALYTICAL CHEMISTRY (2003)
Cajal body proteins SMN and coilin show differential dynamic behaviour in vivo
JE Sleeman et al.
JOURNAL OF CELL SCIENCE (2003)
Essential role for the SMN complex in the specificity of snRNP assembly
L Pellizzoni et al.
SCIENCE (2002)
Assisted RNP assembly: SMN and PRMT5 complexes cooperate in the formation of spliceosomal UsnRNPs
G Meister et al.
EMBO JOURNAL (2002)
Empirical statistical model to estimate the accuracy of peptide identifications made by MS/MS and database search
A Keller et al.
ANALYTICAL CHEMISTRY (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
G Meister et al.
NATURE CELL BIOLOGY (2001)
Arrangement of RNA and proteins in the spliceosomal U1 small nuclear ribonucleoprotein particle
H Stark et al.
NATURE (2001)
Sm protein-Sm site RNA interactions within the inner ring of the spliceosomal snRNP core structure
H Urlaub et al.
EMBO JOURNAL (2001)
Semaphorin 4C, a transmembrane semaphorin, associates with a neurite-outgrowth-related protein, SFAP75
Y Ohoka et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2001)
A functional interaction between the survival motor neuron complex and RNA polymerase II
L Pellizzoni et al.
JOURNAL OF CELL BIOLOGY (2001)
Role for rapid dendritic protein synthesis in hippocampal mGluR-dependent long-term depression
KM Huber et al.
SCIENCE (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)
An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN
CL Lorson et al.
HUMAN MOLECULAR GENETICS (2000)
A mouse model for spinal muscular atrophy
HM Hsieh-Li et al.
NATURE GENETICS (2000)
分享论文
