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。Spinal muscular atrophy type I combined with atrial septal defect in three sibs
P. Møller et al.
CLINICAL GENETICS (2010)
Congenital heart defects in spinal muscular atrophy type I: A clinical report of two siblings and a review of the literature
Leonie A. Menke et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)
Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect
Tatiana O. Gavrilina et al.
HUMAN MOLECULAR GENETICS (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)
Myofibrillar protein turnover: The proteasome and the calpains1,2
D. E. Goll et al.
JOURNAL OF ANIMAL SCIENCE (2008)
Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy
Gabriela E. Oprea et al.
SCIENCE (2008)
Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy
Lyndsay M. Murray et al.
HUMAN MOLECULAR GENETICS (2008)
Cooperative control of striated muscle mass and metabolism by MuRF1 and MuRF2
Christian C. Witt et al.
EMBO JOURNAL (2008)
Roles and potential therapeutic targets of the ubiquitin proteasome system in muscle wasting
David Nury et al.
BMC BIOCHEMISTRY (2007)
Correlations between clinical severity, genotype and muscle pathology in limb girdle muscular dystrophy type 2A
M. Fanin et al.
JOURNAL OF MEDICAL GENETICS (2007)
Structural insights into the interaction of the evolutionarily conserved ZPR1 domain tandem with eukaryotic EF1A, receptors, and SMN complexes
Ashwini K. Mishra et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Molecular mechanisms of spinal muscular atrophy
Charlotte J. Sumner
JOURNAL OF CHILD NEUROLOGY (2007)
Molecular functions of the SMN complex
Stephen J. Kolb et al.
JOURNAL OF CHILD NEUROLOGY (2007)
Kruppel-like Factors (KLFs) in muscle biology
Saptarsi M. Haldar et al.
JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY (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)
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)
Neonatal spinal muscular atrophy type I with bone fractures and heart defect
Eve Vaidla et al.
JOURNAL OF CHILD NEUROLOGY (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.
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)
Calpain 3: a key regulator of the sarcomere?
Stephanie Duguez et al.
FEBS JOURNAL (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)
Spinal muscular atrophy: the RNP connection
C Eggert et al.
TRENDS IN MOLECULAR MEDICINE (2006)
An infant with hypoplastic left heart syndrome and spinal muscular atrophy
AL Cook et al.
CARDIOLOGY IN THE YOUNG (2006)
m-Calpain is required for preimplantation embryonic development in mice
P Dutt et al.
BMC DEVELOPMENTAL BIOLOGY (2006)
From A to Z and back? Multicompartment proteins in the sarcomere
S Lange et al.
TRENDS IN CELL BIOLOGY (2006)
The sarcomeric Z-disc: a nodal point in signalling and disease
Derk Frank et al.
JOURNAL OF MOLECULAR MEDICINE-JMM (2006)
Spinal muscular atrophy: A deficiency in a ubiquitous protein; a motor neuron-specific disease
UR Monani
NEURON (2005)
Determination of peptide substrate specificity for μ-calpain by a peptide library-based approach -: The importance of promed side interactions
D Cuerrier et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (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)
Hypomorphic Smn knockdown C2C12 myoblasts reveal intrinsic defects in myoblast fusion and myotube morphology
D Shafey et al.
EXPERIMENTAL CELL RESEARCH (2005)
Nuclear import of αB-crystallin is phosphorylation-dependent and hampered by hyperphosphorylation of the myopathy-related mutant R120G
J den Englesman et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (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)
Calpains in muscle wasting
M Bartoli et al.
INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY (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)
Is spinal muscular atrophy the result of defects in motor neuron processes?
M Briese et al.
BIOESSAYS (2005)
Calpain 3 participates in sarcomere remodeling by acting upstream of the ubiquitin-proteasome pathway
I Kramerova et al.
HUMAN MOLECULAR GENETICS (2005)
Unrip is a component of SMN complexes active in snRNP assembly
C Carissimi et al.
FEBS LETTERS (2005)
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)
Imaging calpain protease activity by multiphoton FRET in living mice
D Stockholm et al.
JOURNAL OF MOLECULAR BIOLOGY (2005)
Phosphorylation regulates the activity of the SMN complex during assembly of spliceosomal U snRNPs
M Grimmler et al.
EMBO REPORTS (2005)
Mutations in myotilin cause myofibrillar myopathy
D Selcen et al.
NEUROLOGY (2004)
snRNAs contain specific SMN-binding domains that are essential for snRNP assembly
J Yong et al.
MOLECULAR AND CELLULAR BIOLOGY (2004)
At the crossroads of myocardial signaling - The role of Z-discs in intracellular signaling and cardiac function
WG Pyle et al.
CIRCULATION RESEARCH (2004)
Reduced expression of nicotinic AChRs in myotubes from spinal muscular atrophy I patients
AS Arnold et al.
LABORATORY INVESTIGATION (2004)
Null mutation of calpain 3 (p94) in mice causes abnormal sarcomere formation in vivo and in vitro
I Kramerova et al.
HUMAN MOLECULAR GENETICS (2004)
Coupled in vitro import of U snRNPs and SMN, the spinal muscular atrophy protein
U Narayanan et al.
MOLECULAR CELL (2004)
Spinal muscle atrophy type 1 (Werdnig-Hoffman disease) with complex cardiac malformation
W El-Matary et al.
EUROPEAN JOURNAL OF PEDIATRICS (2004)
On the sequential determinants of calpain cleavage
P Tompa et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (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)
Involvement of the ubiquitin-proteasome pathway and molecular chaperones in oculopharyngeal muscular dystrophy
A Abu-Baker et al.
HUMAN MOLECULAR GENETICS (2003)
Unique Sm core structure of U7 snRNPs:: assembly by a specialized SMN complex and the role of a new component, Lsm11, in histone RNA processing
RS Pillai et al.
GENES & DEVELOPMENT (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)
Neuromuscular defects in a Drosophila survival motor neuron gene mutant
YB Chan et al.
HUMAN MOLECULAR GENETICS (2003)
Localization of calpain 3 in human skeletal muscle and its alteration in limb-girdle muscular dystrophy 2A muscle
Y Keira et al.
JOURNAL OF BIOCHEMISTRY (2003)
Calpainopathy - How broad is the spectrum of clinical variability?
A Starling et al.
JOURNAL OF MOLECULAR NEUROSCIENCE (2003)
The 3′untranslated region of human vimentin mRNA interacts with protein complexes containing eEF-1γ and HAX-1
M Al-Maghrebi et al.
NUCLEIC ACIDS RESEARCH (2002)
Essential role for the SMN complex in the specificity of snRNP assembly
L Pellizzoni et al.
SCIENCE (2002)
Identification and characterization of Gemin7, a novel component of the survival of motor neuron complex
J Baccon et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (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)
Possible pathogenic role of muscle cell dysfunction in motor neuron death in spinal muscular atrophy
S Guettier-Sigrist et al.
MUSCLE & NERVE (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)
A multiprotein complex mediates the ATP-dependent assembly of spliceosomal U snRNPs
G Meister et al.
NATURE CELL BIOLOGY (2001)
Lack of cytosolic and transmembrane domains of type XIII collagen results in progressive myopathy
AP Kvist et al.
AMERICAN JOURNAL OF PATHOLOGY (2001)
Calpain 3 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy
J Chae et al.
NEUROMUSCULAR DISORDERS (2001)
What do we really know about the ubiquitin-proteasome pathway in muscle atrophy?
RT Jagoe et al.
CURRENT OPINION IN CLINICAL NUTRITION AND METABOLIC CARE (2001)
Disruption of the mouse μ-calpain gene reveals an essential role in platelet function
M Azam et al.
MOLECULAR AND CELLULAR BIOLOGY (2001)
Muscle cachexia: Current concepts of intracellular mechanisms and molecular regulation
PO Hasselgren et al.
ANNALS OF SURGERY (2001)
Disruption of the murine calpain small subunit gene, Capn4:: Calpain is essential for embryonic development but not for cell growth and division
JSC Arthur et al.
MOLECULAR AND CELLULAR BIOLOGY (2000)
Myopathy phenotype of transgenic mice expressing active site-mutated inactive p94 skeletal muscle-specific calpain, the gene product responsible for limb girdle muscular dystrophy type 2A
K Tagawa 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)
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)
A mouse model for spinal muscular atrophy
HM Hsieh-Li et al.
NATURE GENETICS (2000)