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。Mutant Profilin1 transgenic mice recapitulate cardinal features of motor neuron disease
Daniel Fil et al.
HUMAN MOLECULAR GENETICS (2017)
Plastin 3 is upregulated in iPSC-derived motoneurons from asymptomatic SMN1-deleted individuals
Ludwig Heesen et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2016)
Whole transcriptome profiling reveals the RNA content of motor axons
Michael Briese et al.
NUCLEIC ACIDS RESEARCH (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)
Profilin Interaction with Actin Filament Barbed End Controls Dynamic Instability, Capping, Branching, and Motility
Julien Pernier et al.
DEVELOPMENTAL CELL (2016)
Regulators of actin filament barbed ends at a glance
Shashank Shekhar et al.
JOURNAL OF CELL SCIENCE (2016)
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
Wouter van Rheenen et al.
NATURE GENETICS (2016)
TISSUE-TYPE PLASMINOGEN ACTIVATOR INDUCES SYNAPTIC VESICLE ENDOCYTOSIS IN CEREBRAL CORTICAL NEURONS
M. Yepes et al.
NEUROSCIENCE (2016)
Profilin 1 mutants form aggregates that induce accumulation of prion-like TDP-43
Yoshinori Tanaka et al.
PRION (2016)
Mutant PFN1 causes ALS phenotypes and progressive motor neuron degeneration in mice by a gain of toxicity
Chunxing Yang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (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)
Threonine 89 Is an Important Residue of Profilin-1 That Is Phosphorylatable by Protein Kinase A
David Gau et al.
PLOS ONE (2016)
Profilin 1 with the amyotrophic lateral sclerosis associated mutation T109M displays unaltered actin binding and does not affect the actin cytoskeleton
Axel Freischmidt et al.
BMC NEUROSCIENCE (2015)
Genetic causes of amyotrophic lateral sclerosis: New genetic analysis methodologies entailing new opportunities and challenges
Giuseppe Marangi et al.
BRAIN RESEARCH (2015)
Subcellular Localization and Ser-137 Phosphorylation Regulate Tumor-suppressive Activity of Profilin-1
Marc I. Diamond et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2015)
Interaction of amyotrophic lateral sclerosis/frontotemporal lobar degeneration-associated fused-in-sarcoma with proteins involved in metabolic and protein degradation pathways
Tao Wang et al.
NEUROBIOLOGY OF AGING (2015)
Novelmutations support a role for Profilin 1 in the pathogenesis of ALS
Bradley N. Smith et al.
NEUROBIOLOGY OF AGING (2015)
Motor unit loss estimation by the multipoint incremental MUNE method in children with spinal muscular atrophy - A preliminary study
Malgorzata Gawel et al.
NEUROMUSCULAR DISORDERS (2015)
Amyotrophic lateral sclerosis-associated mutant profilin 1 increases dendritic arborisation and spine formation in primary hippocampal neurons
Merryn Brettle et al.
NEUROSCIENCE LETTERS (2015)
Piccolo Directs Activity Dependent F-Actin Assembly from Presynaptic Active Zones via Daam1
Dhananjay Wagh et al.
PLOS ONE (2015)
Structural basis for mutation-induced destabilization of profilin 1 in ALS
Sivakumar Boopathy et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2015)
Amyotrophic Lateral Sclerosis: Review
Johnny S. Salameh et al.
SEMINARS IN NEUROLOGY (2015)
Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD)
Serena Lattante et al.
TRENDS IN GENETICS (2015)
Calcium binding is essential for plastin 3 function in Smn-deficient motoneurons
Alison N. Lyon et al.
HUMAN MOLECULAR GENETICS (2014)
Osteoporosis Caused by Mutations in PLS3: Clinical and Bone Tissue Characteristics
Somayyeh Fahiminiya et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2014)
Actin dynamics in growth cone motility and navigation
Timothy M. Gomez et al.
JOURNAL OF NEUROCHEMISTRY (2014)
Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis
Pietro Fratta et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2014)
Profilin 1 Associates with Stress Granules and ALS-Linked Mutations Alter Stress Granule Dynamics
Matthew D. Figley et al.
JOURNAL OF NEUROSCIENCE (2014)
THE MOTOR NEURON RESPONSE TO SMN1 DEFICIENCY IN SPINAL MUSCULAR ATROPHY
Peter B. Kang et al.
MUSCLE & NERVE (2014)
State of play in amyotrophic lateral sclerosis genetics
Alan E. Renton et al.
NATURE NEUROSCIENCE (2014)
Observational study of spinal muscular atrophy type I and implications for clinical trials
Richard S. Finkel et al.
NEUROLOGY (2014)
The intriguing case of motor neuron disease: ALS and SMA come closer
Tilmann Achsel et al.
BIOCHEMICAL SOCIETY TRANSACTIONS (2013)
Spliceosome integrity is defective in the motor neuron diseases ALS and SMA
Hitomi Tsuiji et al.
EMBO MOLECULAR MEDICINE (2013)
Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality
Bastian Ackermann 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)
Synaptic defects in type I spinal muscular atrophy in human development
Rebeca Martinez-Hernandez et al.
JOURNAL OF PATHOLOGY (2013)
Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia
Cinzia Tiloca et al.
NEUROBIOLOGY OF AGING (2013)
Mutations in the profilin 1 gene are not common in amyotrophic lateral sclerosis of Chinese origin
Zhang-Yu Zou et al.
NEUROBIOLOGY OF AGING (2013)
A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts
Caroline Ingre et al.
NEUROBIOLOGY OF AGING (2013)
PFN1 mutations are rare in Han Chinese populations with amyotrophic lateral sclerosis
YongPing Chen et al.
NEUROBIOLOGY OF AGING (2013)
Defects in neuromuscular junction remodelling in the Smn(2B/-) mouse model of spinal muscular atrophy
Lyndsay M. Murray et al.
NEUROBIOLOGY OF DISEASE (2013)
PLS3 Mutations in X-Linked Osteoporosis with Fractures
Fleur S. van Dijk et al.
NEW ENGLAND JOURNAL OF MEDICINE (2013)
Early Changes of Neuromuscular Transmission in the SOD1(G93A) Mice Model of ALS Start Long before Motor Symptoms Onset
Mariana C. Rocha et al.
PLOS ONE (2013)
Superpriming of synaptic vesicles after their recruitment to the readily releasable pool
Jae Sung Lee et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
Profilin-1 mutations are rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia
Marka van Blitterswijk et al.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION (2013)
Fasudil improves survival and promotes skeletal muscle development in a mouse model of spinal muscular atrophy
Melissa Bowerman et al.
BMC MEDICINE (2012)
Survival Motor Neuron Affects Plastin 3 Protein Levels Leading to Motor Defects
Le T. Hao et al.
JOURNAL OF NEUROSCIENCE (2012)
Motor Neuron Rescue in Spinal Muscular Atrophy Mice Demonstrates That Sensory-Motor Defects Are a Consequence, Not a Cause, of Motor Neuron Dysfunction
Rocky G. Gogliotti et al.
JOURNAL OF NEUROSCIENCE (2012)
Survival Motor Neuron Protein in Motor Neurons Determines Synaptic Integrity in Spinal Muscular Atrophy
Tara L. Martinez et al.
JOURNAL OF NEUROSCIENCE (2012)
SMN deficiency attenuates migration of U87MG astroglioma cells through the activation of RhoA
Victor Caraballo-Miralles et al.
MOLECULAR AND CELLULAR NEUROSCIENCE (2012)
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
Chi-Hong Wu et al.
NATURE (2012)
Stimulus-dependent phosphorylation of profilin-1 in angiogenesis
Yi Fan et al.
NATURE CELL BIOLOGY (2012)
Prospective cohort study of spinal muscular atrophy types 2 and 3
Petra Kaufmann et al.
NEUROLOGY (2012)
Neuronal Profilin Isoforms Are Addressed by Different Signalling Pathways
Kai Murk et al.
PLOS ONE (2012)
FUS-SMN Protein Interactions Link the Motor Neuron Diseases ALS and SMA
Tomohiro Yamazaki et al.
CELL REPORTS (2012)
The Cytoskeletal and Signaling Mechanisms of Axon Collateral Branching
Gianluca Gallo
DEVELOPMENTAL NEUROBIOLOGY (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)
Piccolo Regulates the Dynamic Assembly of Presynaptic F-Actin
Clarissa L. Waites et al.
JOURNAL OF NEUROSCIENCE (2011)
Multipoint incremental motor unit number estimation as an outcome measure in ALS
J. M. Shefner et al.
NEUROLOGY (2011)
Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings
Sara Bernal et al.
NEUROMUSCULAR DISORDERS (2011)
Early Functional Impairment of Sensory-Motor Connectivity in a Mouse Model of Spinal Muscular Atrophy
George Z. Mentis et al.
NEURON (2011)
SMN Requirement for Synaptic Vesicle, Active Zone and Microtubule Postnatal Organization in Motor Nerve Terminals
Laura Torres-Benito et al.
PLOS ONE (2011)
Association of Plastin 3 Expression With Disease Severity in Spinal Muscular Atrophy Only in Postpubertal Females
George Stratigopoulos et al.
ARCHIVES OF NEUROLOGY (2010)
Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model
Melissa Bowerman et al.
HUMAN MOLECULAR GENETICS (2010)
Regulation of actin cytoskeleton dynamics in cells
Sung Haeng Lee et al.
MOLECULES AND CELLS (2010)
Review: Neuromuscular synaptic vulnerability in motor neurone disease: amyotrophic lateral sclerosis and spinal muscular atrophy
L. M. Murray et al.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY (2010)
Synaptic Defects in the Spinal and Neuromuscular Circuitry in a Mouse Model of Spinal Muscular Atrophy
Karen K. Y. Ling et al.
PLOS ONE (2010)
Fine-tuning of neuronal architecture requires two profilin isoforms
Kristin Michaelsen et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Profilin1 regulates PI(3,4)P2 and lamellipodin accumulation at the leading edge thus influencing motility of MDA-MB-231 cells
Yong Ho Bae et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Conserved Genes Act as Modifiers of Invertebrate SMN Loss of Function Defects
Maria Dimitriadi et al.
PLOS GENETICS (2010)
How depolymerization can promote polymerization: the case of actin and profilin
Elena G. Yarmola et al.
BIOESSAYS (2009)
Impaired Synaptic Vesicle Release and Immaturity of Neuromuscular Junctions in Spinal Muscular Atrophy Mice
Lingling Kong et al.
JOURNAL OF NEUROSCIENCE (2009)
SMN, profilin IIa and plastin 3: A link between the deregulation of actin dynamics and SMA pathogenesis
Melissa Bowerman et al.
MOLECULAR AND CELLULAR NEUROSCIENCE (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)
Early detachment of neuromuscular junction proteins in ALS mice with SODG93A mutation
Hisashi Narai et al.
NEUROLOGY INTERNATIONAL (2009)
A natural history study of late onset spinal muscular atrophy types 3b and 4
S. Piepers et al.
JOURNAL OF NEUROLOGY (2008)
Phosphorylation of profilin by ROCK1 regulates polyglutamine aggregation
Jieya Shao et al.
MOLECULAR AND CELLULAR BIOLOGY (2008)
Actin in action: the interplay between the actin cytoskeleton and synaptic efficacy
Lorenzo A. Cingolani et al.
NATURE REVIEWS NEUROSCIENCE (2008)
Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy
Gabriela E. Oprea et al.
SCIENCE (2008)
Structural basis for the recruitment of profilin-actin complexes during filament elongation by Ena/VASP
Francois Ferron et al.
EMBO JOURNAL (2007)
Consensus statement for Standard of Care in Spinal Muscular Atrophy
Ching H. Wang et al.
JOURNAL OF CHILD NEUROLOGY (2007)
Profilin2 contributes to synaptic vesicle exocytosis, neuronal excitability, and novelty-seeking behavior
Pietro Pilo Boyl et al.
EMBO JOURNAL (2007)
The spinal muscular atrophy gene product regulates neurite outgrowth:: Importance of the C terminus
Jeroen van Bergeijk et al.
FASEB JOURNAL (2007)
Chaperoning ribonucleoprotein biogenesis in health and disease
Livio Pellizzoni
EMBO REPORTS (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)
RhoA-Kinase and myosin II are required for the maintenance of growth cone polarity and guidance by nerve growth factor
Robert R. Loudon et al.
JOURNAL OF NEUROBIOLOGY (2006)
Myosin II functions in actin-bundle turnover in neuronal growth cones
NA Medeiros et al.
NATURE CELL BIOLOGY (2006)
Mouse profilin 2 regulates endocytosis and competes with SH3 ligand binding to dynamin 1
R Gareus et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
ALS2/Alsin regulates Rac-PAK signaling and neurite outgrowth
EL Tudor et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
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.
EXPERIMENTAL CELL RESEARCH (2005)
Plastins: versatile modulators of actin organization in (patho)physiological cellular processes
V Delanote et al.
ACTA PHARMACOLOGICA SINICA (2005)
Natural history of denervation in SMA:: Relation to age, SMN2 copy number, and function
KJ Swoboda et al.
ANNALS OF NEUROLOGY (2005)
Actin-filament cross-linking protein T-plastin increases Arp2/3-mediated actin-based movement
A Giganti et al.
JOURNAL OF CELL SCIENCE (2005)
Adaptive and maladaptive motor axonal sprouting in aging and motoneuron disease
T Gordon et al.
NEUROLOGICAL RESEARCH (2004)
Amyotrophic lateral sclerosis is a distal axonopathy: evidence in mice and man
LR Fischer et al.
EXPERIMENTAL NEUROLOGY (2004)
Alsin is a Rab5 and Rac1 guanine nucleotide exchange factor
JD Topp et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Formin is a processive motor that requires profilin to accelerate actin assembly and associated ATP hydrolysis
S Romero et al.
CELL (2004)
Regulation of the neuronal actin cytoskeleton by ADF/cofilin
PD Sarmiere et al.
JOURNAL OF NEUROBIOLOGY (2004)
Regulation of growth cone actin filaments by guidance cues
G Gallo et al.
JOURNAL OF NEUROBIOLOGY (2004)
Rho-dependent contractile responses in the neuronal growth cone are independent of classical peripheral retrograde actin flow
XF Zhang et al.
NEURON (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)
Activity-induced targeting of profilin and stabilization of dendritic spine morphology
M Ackermann et al.
NATURE NEUROSCIENCE (2003)
RhoA/ROCK regulation of neuritogenesis via profilin IIa-mediated control of actin stability
JS Da Silva 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)
Growth cones integrate signaling from multiple guidance cues
VD Dontchev et al.
JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY (2003)
Actin turnover is required to prevent axon retraction driven by endogenous actomyosin contractility
G Gallo et al.
JOURNAL OF CELL BIOLOGY (2002)
Imaging actin and dynamin recruitment during invagination of single clathrin-coated pits
CJ Merrifield et al.
NATURE CELL BIOLOGY (2002)
Survival motor neuron (SMN) protein: role in neurite outgrowth and neuromuscular maturation during neuronal differentiation and development
L Fan et al.
HUMAN MOLECULAR GENETICS (2002)
A cross-linked profilin-actin heterodimer interferes with elongation at the fast-growing end of F-actin
T Nyman et al.
JOURNAL OF BIOLOGICAL 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)
The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis
Y Yang et al.
NATURE GENETICS (2001)
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2
S Hadano et al.
NATURE GENETICS (2001)
Calmodulin and profilin coregulate axon outgrowth in Drosophila
YS Kim et al.
JOURNAL OF NEUROBIOLOGY (2001)
Profilin I is essential for cell survival and cell division in early mouse development
W Witke et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2001)
AtFim1 is an actin filament crosslinking protein from Arabidopsis thaliana
DR Kovar et al.
PLANT JOURNAL (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)
Subcellular localization and axonal transport of the survival motor neuron (SMN) protein in the developing rat spinal cord
S Pagliardini et al.
HUMAN MOLECULAR GENETICS (2000)
分享论文
