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。Overexpression of survival motor neuron improves neuromuscular function and motor neuron survival in mutant SOD1 mice
Bradley J. Turner et al.
NEUROBIOLOGY OF AGING (2014)
Spliceosome integrity is defective in the motor neuron diseases ALS and SMA
Hitomi Tsuiji et al.
EMBO MOLECULAR MEDICINE (2013)
Decreased number of Gemini of coiled bodies and U12 snRNA level in amyotrophic lateral sclerosis
Tomohiko Ishihara 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)
Identification and characterization of Drosophila Snurportin reveals a role for the import receptor Moleskin/importin-7 in snRNP biogenesis
Amanda Hicks Natalizio et al.
MOLECULAR BIOLOGY OF THE CELL (2013)
Mislocalised FUS mutants stall spliceosomal snRNPs in the cytoplasm
Valeria Gerbino et al.
NEUROBIOLOGY OF DISEASE (2013)
The Gemin Associates of Survival Motor Neuron Are Required for Motor Function in Drosophila
Rebecca Borg et al.
PLOS ONE (2013)
Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy
Zhenxi Zhang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
Developmental arrest of Drosophila survival motor neuron (Smn) mutants accounts for differences in expression of minor intron-containing genes
Eric L. Garcia et al.
RNA (2013)
Spinal muscular atrophy: going beyond the motor neuron
Gillian Hamilton et al.
TRENDS IN MOLECULAR MEDICINE (2013)
Cajal bodies: where form meets function
Martin Machyna et al.
WILEY INTERDISCIPLINARY REVIEWS-RNA (2013)
U6 RNA biogenesis and disease association
Seweryn Mroczek et al.
WILEY INTERDISCIPLINARY REVIEWS-RNA (2013)
Spinal muscular atrophy: The role of SMN in axonal mRNA regulation
Claudia Fallini et al.
BRAIN RESEARCH (2012)
An SMN-Dependent U12 Splicing Event Essential for Motor Circuit Function
Francesco Lotti et al.
CELL (2012)
Mutation of a U2 snRNA Gene Causes Global Disruption of Alternative Splicing and Neurodegeneration
Yichang Jia et al.
CELL (2012)
SMN Is Required for Sensory-Motor Circuit Function in Drosophila
Wendy L. Imlach et al.
CELL (2012)
Mutant superoxide dismutase 1 (SOD1), a cause of amyotrophic lateral sclerosis, disrupts the recruitment of SMN, the spinal muscular atrophy protein to nuclear Cajal bodies
Shingo Kariya et al.
HUMAN MOLECULAR GENETICS (2012)
Nuclear Localization of Human SOD1 and Mutant SOD1-Specific Disruption of Survival Motor Neuron Protein Complex in Transgenic Amyotrophic Lateral Sclerosis Mice
Barry Gertz et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2012)
Post-transcriptional modification of spliceosomal RNAs is normal in SMN-deficient cells
Svetlana Deryusheva et al.
RNA (2012)
A Drosophila Model of Spinal Muscular Atrophy Uncouples snRNP Biogenesis Functions of Survival Motor Neuron from Locomotion and Viability Defects
Kavita Praveen et al.
CELL REPORTS (2012)
FUS-SMN Protein Interactions Link the Motor Neuron Diseases ALS and SMA
Tomohiro Yamazaki et al.
CELL REPORTS (2012)
Spinal Muscular Atrophy A Timely Review
Stephen J. Kolb et al.
ARCHIVES OF NEUROLOGY (2011)
Invertebrate models of spinal muscular atrophy: Insights into mechanisms and potential therapeutics
Stuart J. Grice et al.
BIOESSAYS (2011)
Structure of a Key Intermediate of the SMN Complex Reveals Gemin2's Crucial Function in snRNP Assembly
Rundong Zhang et al.
CELL (2011)
Gem formation upon constitutive Gemin3 overexpression in Drosophila
Ruben J. Cauchi
CELL BIOLOGY INTERNATIONAL (2011)
The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy
James N. Sleigh et al.
DISEASE MODELS & MECHANISMS (2011)
U bodies respond to nutrient stress in Drosophila
Mickey Buckingham et al.
EXPERIMENTAL CELL RESEARCH (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)
A novel Caenorhabditis elegans allele, smn-1(cb131), mimicking a mild form of spinal muscular atrophy, provides a convenient drug screening platform highlighting new and pre-approved compounds
James N. Sleigh et al.
HUMAN MOLECULAR GENETICS (2011)
The ALS-associated proteins FUS and TDP-43 function together to affect Drosophila locomotion and life span
Ji-Wu Wang et al.
JOURNAL OF CLINICAL INVESTIGATION (2011)
A screen for regulators of survival of motor neuron protein levels
Nina R. Makhortova et al.
NATURE CHEMICAL BIOLOGY (2011)
Clinical genetics of amyotrophic lateral sclerosis: what do we really know?
Peter M. Andersen et al.
NATURE REVIEWS NEUROLOGY (2011)
Molecular pathways of motor neuron injury in amyotrophic lateral sclerosis
Laura Ferraiuolo et al.
NATURE REVIEWS NEUROLOGY (2011)
FUS and TARDBP but Not SOD1 Interact in Genetic Models of Amyotrophic Lateral Sclerosis
Edor Kabashi et al.
PLOS GENETICS (2011)
Biogenesis of spliceosomal small nuclear ribonucleoproteins
Utz Fischer et al.
WILEY INTERDISCIPLINARY REVIEWS-RNA (2011)
SMN and the Gemin proteins form sub-complexes that localise to both stationary and dynamic neurite granules
Adrian G. Todd et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2010)
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)
SMN and Gemins: 'We are family'... or are we? Insights into the partnership between Gemins and the spinal muscular atrophy disease protein SMN
Ruben J. Cauchi
BIOESSAYS (2010)
Drosophila SMN complex proteins Gemin2, Gemin3, and Gemin5 are components of U bodies
Ruben J. Cauchi et al.
EXPERIMENTAL CELL RESEARCH (2010)
The role of RNA processing in the pathogenesis of motor neuron degeneration
Dirk Baeumer et al.
EXPERT REVIEWS IN MOLECULAR MEDICINE (2010)
TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration
Clotilde Lagier-Tourenne et al.
HUMAN MOLECULAR GENETICS (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)
Gemin5 Delivers snRNA Precursors to the SMN Complex for snRNP Biogenesis
Jeongsik Yong et al.
MOLECULAR CELL (2010)
RNA PROCESSING DEFECTS ASSOCIATED WITH DISEASES OF THE MOTOR NEURON
Stephen J. Kolb et al.
MUSCLE & NERVE (2010)
Coilin-dependent snRNP assembly is essential for zebrafish embryogenesis
Magdalena Strzelecka et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2010)
ALS-associated mutations in TDP-43 increase its stability and promote TDP-43 complexes with FUS/TLS
Shuo-Chien Ling et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Altered distributions of Gemini of coiled bodies and mitochondria in motor neurons of TDP-43 transgenic mice
Xiu Shan et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
RNA metabolism and the pathogenesis of motor neuron diseases
Robin Lemmens et al.
TRENDS IN NEUROSCIENCES (2010)
The Cajal Body and Histone Locus Body
Zehra Nizami et al.
COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2010)
Autosomal-Dominant Retinitis Pigmentosa Caused by a Mutation in SNRNP200, a Gene Required for Unwinding of U4/U6 snRNAs
Chen Zhao et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
The spinal muscular atrophy protein SMN affects Drosophila germline nuclear organization through the U body-P body pathway
Lin Lee et al.
DEVELOPMENTAL BIOLOGY (2009)
Nuclear Bodies: Random Aggregates of Sticky Proteins or Crucibles of Macromolecular Assembly?
A. Gregory Matera et al.
DEVELOPMENTAL CELL (2009)
Deletion of smn-1, the Caenorhabditis elegans ortholog of the spinal muscular atrophy gene, results in locomotor dysfunction and reduced lifespan
Michael Briese et al.
HUMAN MOLECULAR GENETICS (2009)
A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice
Eileen Workman et al.
HUMAN MOLECULAR GENETICS (2009)
Role of Survival Motor Neuron Complex Components in Small Nuclear Ribonucleoprotein Assembly
Chihiro Ogawa et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2009)
Non-cell autonomous toxicity in neurodegenerative disorders: ALS and beyond
Hristelina Ilieva et al.
JOURNAL OF CELL BIOLOGY (2009)
Gemin3 Is an Essential Gene Required for Larval Motor Function and Pupation in Drosophila
Karl B. Shpargel et al.
MOLECULAR BIOLOGY OF THE CELL (2009)
Small Cajal Body-specific RNAs of Drosophila Function in the Absence of Cajal Bodies
Svetlana Deryusheva et al.
MOLECULAR BIOLOGY OF THE CELL (2009)
Coilin Is Essential for Cajal Body Organization in Drosophila melanogaster
Ji-Long Liu et al.
MOLECULAR BIOLOGY OF THE CELL (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)
Gemin5-snRNA interaction reveals an RNA binding function for WD repeat domains
Chi-kong Lau et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2009)
Survival motor neuron deficiency enhances progression in an amyotrophic lateral sclerosis mouse model
Bradley J. Turner et al.
NEUROBIOLOGY OF DISEASE (2009)
Reduced Viability, Fertility and Fecundity in Mice Lacking the Cajal Body Marker Protein, Coilin
Michael P. Walker et al.
PLOS ONE (2009)
Alternative Splicing Events Are a Late Feature of Pathology in a Mouse Model of Spinal Muscular Atrophy
Dirk Baeumer et al.
PLOS GENETICS (2009)
TDP-43 expression in mouse models of amyotrophic lateral sclerosis and spinal muscular atrophy
Bradley J. Turner et al.
BMC NEUROSCIENCE (2008)
SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing
Zhenxi Zhang et al.
CELL (2008)
DEAD-box protein-103 (DP103, Ddx20) is essential for early embryonic development and modulates ovarian morphology and function
Jean-Francois Mouillet et al.
ENDOCRINOLOGY (2008)
Spliceosomal small nuclear ribonucleoprotein particles repeatedly cycle through Cajal bodies
David Stanek et al.
MOLECULAR BIOLOGY OF THE CELL (2008)
Modeling Spinal Muscular Atrophy in Drosophila
Howard Chia-Hao Chang et al.
PLOS ONE (2008)
Evolution of an RNP assembly system:: A minimal SMN complex facilitates formation of UsnRNPs in Drosophila melanogaster
Matthias Kroiss et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Sm protein methylation is dispensable for snRNP assembly in Drosophila melanogaster
Graydon B. Gonsalvez et al.
RNA (2008)
A Motor Function for the DEAD-Box RNA Helicase, Gemin3, in Drosophila
Ruben J. Cauchi et al.
PLOS GENETICS (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)
SMN-independent subunits of the SMN complex - Identification of a small nuclear ribonucleoprotein assembly intermediate
Daniel J. Battle et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
Fishing for a mechanism: Using zebrafish to understand spinal muscular atrophy
Christine E. Beattie et al.
JOURNAL OF CHILD NEUROLOGY (2007)
Absence of gemin5 from SMN complexes in nuclear Cajal bodies
Le thi Hao et al.
BMC CELL BIOLOGY (2007)
U bodies are cytoplasmic structures that contain uridine-rich small nuclear ribonucleoproteins and associate with P bodies
Ji-Long Liu et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Gemin2 plays an important role in stabilizing the survival of motor neuron complex
Chihiro Ogawa et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
A Drosophila melanogaster model of spinal muscular atrophy reveals a function for SMN in striated muscle
T. K. Rajendra et al.
JOURNAL OF CELL BIOLOGY (2007)
A comprehensive interaction map of the human survival of motor neuron (SMN) complex
Simon Otter et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
Non-coding RNAs: lessons from the small nuclear and small nucleolar RNAs
A. Gregory Matera et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2007)
Gemin8 is required for the architecture and function of the survival motor neuron complex
Claudia Carissimi et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
Novel aminoglycosides increase SMN levels in spinal muscular atrophy fibroblasts
Virginia B. Mattis et al.
HUMAN GENETICS (2006)
Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis
Tessa L. Carrel et al.
JOURNAL OF NEUROSCIENCE (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)
The gemin5 protein of the SMN complex identifies snRNAs
Daniel J. Battle et al.
MOLECULAR CELL (2006)
Ongoing U snRNP biogenesis is required for the integrity of Cajal bodies
Ira Lemm et al.
MOLECULAR BIOLOGY OF THE CELL (2006)
Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number
B Wirth et al.
HUMAN GENETICS (2006)
Gemin8 is a novel component of the survival motor neuron complex and functions in small nuclear ribonucleoprotein assembly
C Carissimi et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
Depletion of SMN by RNA interference in HeLa cells induces defects in Cajal body formation
Cyrille Girard et al.
NUCLEIC ACIDS RESEARCH (2006)
The fly as a model for neurodegenerative diseases: Is it worth the jump?
Ruben J. Cauchi et al.
NEURODEGENERATIVE DISEASES (2006)
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)
Unrip, a factor implicated in cap-independent translation, associates with the cytosolic SMN complex and influences its intracellular localization
M Grimmler et al.
HUMAN MOLECULAR GENETICS (2005)
Reduced U snRNP assembly causes motor axon degeneration in an animal model for spinal muscular atrophy
C Winkler et al.
GENES & DEVELOPMENT (2005)
SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS
JH Veldink et al.
NEUROLOGY (2005)
Is spinal muscular atrophy the result of defects in motor neuron processes?
M Briese et al.
BIOESSAYS (2005)
Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: early leads towards a therapeutic for spinal muscular atrophy
J Jarecki et al.
HUMAN MOLECULAR GENETICS (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)
Gemins modulate the expression and activity of the SMN complex
WQ Feng et al.
HUMAN MOLECULAR GENETICS (2005)
The Gemin6-Gemin7 heterodimer from the survival of motor neurons complex has an Sm protein-like structure
YL Ma et al.
STRUCTURE (2005)
Unrip is a component of SMN complexes active in snRNP assembly
C Carissimi et al.
FEBS LETTERS (2005)
rigor mortis encodes a novel nuclear receptor interacting protein required for ecdysone signaling during Drosophila larval development
J Gates et al.
DEVELOPMENT (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)
The centennial of the Cajal body
JG Gall
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2003)
Neuromuscular defects in a Drosophila survival motor neuron gene mutant
YB Chan et al.
HUMAN MOLECULAR GENETICS (2003)
Modification of Sm small nuclear RNAs occurs in the nucleoplasmic Cajal body following import from the cytoplasm
BE Jády et al.
EMBO JOURNAL (2003)
Splicing double: Insights from the second spliceosome
AA Patel et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2003)
A novel domain within the DEAD-box protein DP103 is essential for transcriptional repression and helicase activity
XM Yan et al.
MOLECULAR AND CELLULAR BIOLOGY (2003)
Identification and characterization of Gemin7, a novel component of the survival of motor neuron complex
J Baccon et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
Gene targeting of Gemin2 in mice reveals a correlation between defects in the biogenesis of U snRNPs and motoneuron cell death
S Jablonka et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
Gemin5, a novel WD repeat protein component of the SMN complex that binds Sm proteins
AK Gubitz et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
Purification of native survival of motor neurons complexes and identification of Gemin6 as a novel component
L Pellizzoni et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
Coilin forms the bridge between Cajal bodies and SMN, the spinal muscular atrophy protein
MD Hebert et al.
GENES & DEVELOPMENT (2001)
Residual Cajal bodies in coilin knockout mice fail to recruit Sm snRNPs and SMN, the spinal muscular atrophy gene product
KE Tucker et al.
JOURNAL OF CELL BIOLOGY (2001)
Nuclear gems and cajal (coiled) bodies in fetal tissues: Nucleolar distribution of the spinal muscular atrophy protein, SMN
PJ Young et al.
EXPERIMENTAL CELL RESEARCH (2001)
The exon 2b region of the spinal muscular atrophy protein, SMN, is involved in self-association and SIP1 binding
PJ Young et al.
HUMAN MOLECULAR GENETICS (2000)
Direct interaction of Smn with dp103, a putative RNA helicase: a role for Smn in transcription regulation?
L Campbell et al.
HUMAN MOLECULAR GENETICS (2000)
The relationship between SMN, the spinal muscular atrophy protein, and nuclear coiled bodies in differentiated tissues and cultured cells
PJ Young et al.
EXPERIMENTAL CELL RESEARCH (2000)
The Schizosaccharomyces pombe protein Yab8p and a novel factor, Yip1p, share structural and functional similarity with the spinal muscular atrophy-associated proteins SMN and SIP1
S Hannus et al.
HUMAN MOLECULAR GENETICS (2000)
Characterization of the Schizosaccharomyces pombe orthologue of the human survival motor neuron (SMN) protein
N Owen et al.
HUMAN MOLECULAR GENETICS (2000)
Gemin4: A novel component of the SMN complex that is found in both gems and nucleoli
B Charroux et al.
JOURNAL OF CELL BIOLOGY (2000)
分享论文
