The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy.
about
Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophyWRAP53 is essential for Cajal body formation and for targeting the survival of motor neuron complex to Cajal bodiesModeling spinal muscular atrophy in DrosophilaThe splicing regulator Sam68 binds to a novel exonic splicing silencer and functions in SMN2 alternative splicing in spinal muscular atrophyThe zinc finger protein ZPR1 is a potential modifier of spinal muscular atrophy.SMN interacts with a novel family of hnRNP and spliceosomal proteinsCoilin forms the bridge between Cajal bodies and SMN, the spinal muscular atrophy proteinThe contribution of mouse models to understanding the pathogenesis of spinal muscular atrophyIndoprofen upregulates the survival motor neuron protein through a cyclooxygenase-independent mechanismA SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA miceA functional interaction between the survival motor neuron complex and RNA polymerase IICopy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative DiseasesMolecular Mechanisms of Neurodegeneration in Spinal Muscular AtrophySpinal muscular atrophy: development and implementation of potential treatmentsStem cell transplantation for motor neuron disease: current approaches and future perspectivesHigh expression level of Tra2-β1 is responsible for increased SMN2 exon 7 inclusion in the testis of SMA miceOxidative Stress Triggers Body-Wide Skipping of Multiple Exons of the Spinal Muscular Atrophy GeneSkeletal muscle DNA damage precedes spinal motor neuron DNA damage in a mouse model of Spinal Muscular Atrophy (SMA)Genetic correction of human induced pluripotent stem cells from patients with spinal muscular atrophy.The spinal muscular atrophy disease protein SMN is linked to the Golgi networkA large animal model of spinal muscular atrophy and correction of phenotype.Spinal Muscular AtrophyThe promise and perils of HDAC inhibitors in neurodegenerationAn in vivo reporter system for measuring increased inclusion of exon 7 in SMN2 mRNA: potential therapy of SMASAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophyEarly heart failure in the SMNDelta7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN deliveryTrichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy.Cardiac defects contribute to the pathology of spinal muscular atrophy modelsDoxycycline-controlled splicing modulation by regulated antisense U7 snRNA expression cassettesRescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulationChondrolectin affects cell survival and neuronal outgrowth in in vitro and in vivo models of spinal muscular atrophyA comparison of three electrophysiological methods for the assessment of disease status in a mild spinal muscular atrophy mouse modelSmn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneuronsThe critical role of membralin in postnatal motor neuron survival and diseaseA role for SMN exon 7 splicing in the selective vulnerability of motor neurons in spinal muscular atrophyNeuron-specific knock-down of SMN1 causes neuron degeneration and death through an apoptotic mechanismSMN in spinal muscular atrophy and snRNP biogenesisInduced pluripotent stem cells from a spinal muscular atrophy patientA genetic approach to access serotonin neurons for in vivo and in vitro studies.A novel method for oral delivery of drug compounds to the neonatal SMNDelta7 mouse model of spinal muscular atrophy
P2860
Q21144988-54F6D9AB-5112-471B-8599-B48B9BD84F27Q21145787-402B45AF-D134-46C9-92FD-98946B2168DFQ21562542-0B5ABDED-C7F7-4482-8AEA-CBEDC58B8CC7Q24301061-58975254-E63F-4B08-A649-39F8136D6DC8Q24307665-E4793528-74A2-442D-8262-BC341EA4C8DDQ24535803-2038394F-620C-42DD-8B81-F505FD2BA536Q24600358-EAA8ED5E-7303-4626-A97A-3E544E69021FQ24604444-B32B341F-B529-4A44-8907-3673C1715260Q24613087-5D561F07-5811-4A54-B609-4622BF27C96EQ24657021-CE92A1F4-CBC0-4D49-AF3B-39AC6ED5F532Q24674951-207B2DCE-B52C-4CD1-B32E-C8782576B0CEQ26750803-22DB801E-A27D-40A8-98CF-C7D0FD734ABFQ26752798-3BA7AE31-E8A7-4DE4-A1F8-C1BCB09F3A14Q26861377-E3558D8C-B48B-4DB2-B43D-79BF8B160B0BQ26995278-B5141CF8-5B50-4AD2-A064-16BBD6B34EB0Q27311317-3412B592-40C1-4057-8EC3-AD6882E8008CQ27312184-42BA5164-A3C6-4B9E-9DA2-8A00C166295EQ27312220-BFD4D7EE-73D8-449C-851D-794E7C48C761Q27328843-3EF081FE-43C8-4600-8688-193EB359730FQ27329644-BE22E0CB-F719-4192-AE13-983A36B96EBEQ27340106-06C64673-ADF1-4D7B-B1C2-AB1C95E8F5E1Q28080774-20A0D3AB-710E-497E-A223-415D5686FAE6Q28087539-0D851E2D-05FA-4DE6-AA35-A74861B31ED0Q28204816-C2440F3E-D4C7-4EFA-8019-F275AD92E348Q28271235-3472BB45-6FBD-4635-AEC1-FF92898ABEFBQ28288188-76CF0A08-D000-4608-8E4B-E543DAF03D05Q28289793-DFB7C579-23FC-438C-AB48-E55270E05E6DQ28290032-A5AC5C29-8BDE-4F44-BFA5-7E579874358EQ28290763-08EA1DBD-364B-4017-8B59-3531981B7C12Q28300972-853B1728-A105-44E1-990D-162B13936CC7Q28506113-D2022D49-DF1E-4050-8A54-365ED6A11B7CQ28544408-85731084-116F-4B2D-A054-28DAB5CAD6E4Q28576647-FAF95327-815E-47D5-A4EB-8699F41A99F0Q28585103-3374125A-21B9-4E85-9D0E-A3D3D1DCDA49Q28586960-D9813EF8-36FF-4CCB-996E-D39C81129DB8Q28818674-8AA23DCE-A108-4757-9346-FC1572D4A64FQ29013847-80E43C72-85E3-4970-9BE5-5857CC74469CQ29614340-1316E9CF-C668-4E9B-B5E0-5AE9FBEBCF73Q30351712-A4092635-AFB0-4CC3-A4C7-594F63E49D14Q30488346-860F2DE3-313E-479C-A860-66B5817B02E0
P2860
The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy.
description
2000 nî lūn-bûn
@nan
2000年の論文
@ja
2000年学术文章
@wuu
2000年学术文章
@zh
2000年学术文章
@zh-cn
2000年学术文章
@zh-hans
2000年学术文章
@zh-my
2000年学术文章
@zh-sg
2000年學術文章
@yue
2000年學術文章
@zh-hant
name
The human centromeric survival ...... with spinal muscular atrophy.
@en
The human centromeric survival motor neuron gene
@nl
type
label
The human centromeric survival ...... with spinal muscular atrophy.
@en
The human centromeric survival motor neuron gene
@nl
prefLabel
The human centromeric survival ...... with spinal muscular atrophy.
@en
The human centromeric survival motor neuron gene
@nl
P2093
P356
P1476
The human centromeric survival ...... with spinal muscular atrophy.
@en
P2093
A H Burghes
C Andreassi
D D Coovert
D W Parsons
G E Morris
S Jablonka
U R Monani
P304
P356
10.1093/HMG/9.3.333
P577
2000-02-01T00:00:00Z