TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
about
Dysregulation of the autophagy-endolysosomal system in amyotrophic lateral sclerosis and related motor neuron diseasesVAPB interacts with the mitochondrial protein PTPIP51 to regulate calcium homeostasisProtein interaction analysis of senataxin and the ALS4 L389S mutant yields insights into senataxin post-translational modification and uncovers mutant-specific binding with a brain cytoplasmic RNA-encoded peptideThe FTLD risk factor TMEM106B and MAP6 control dendritic trafficking of lysosomesBiochemical and genetic evidence for a role of IGHMBP2 in the translational machineryTARDBP mutation analysis in TDP-43 proteinopathies and deciphering the toxicity of mutant TDP-43Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementiaDynamics of axonal mRNA transport and implications for peripheral nerve regenerationAltered ribostasis: RNA-protein granules in degenerative disordersMotor neuron involvement in multisystem proteinopathy: implications for ALSMutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degenerationThe genetics and neuropathology of frontotemporal lobar degenerationCholinergic-associated loss of hnRNP-A/B in Alzheimer's disease impairs cortical splicing and cognitive function in miceMutations in the profilin 1 gene cause familial amyotrophic lateral sclerosisWhole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosisALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear importCharacterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72Exome sequencing reveals VCP mutations as a cause of familial ALSA seeding reaction recapitulates intracellular formation of Sarkosyl-insoluble transactivation response element (TAR) DNA-binding protein-43 inclusionsExpanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALSA hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTDConjoint pathologic cascades mediated by ALS/FTLD-U linked RNA-binding proteins TDP-43 and FUSAccumulation of transactive response DNA binding protein 43 in mild cognitive impairment and Alzheimer diseaseStructural insights into TDP-43 in nucleic-acid binding and domain interactionsNeuropathology of non-Alzheimer degenerative disordersFrom animal models to human disease: a genetic approach for personalized medicine in ALSPrions, prion-like prionoids, and neurodegenerative disordersInside out: the role of nucleocytoplasmic transport in ALS and FTLDRecent advances in amyotrophic lateral sclerosisQuo vadis motor neuron disease?Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative DiseasesLong Non-coding RNAs in the CytoplasmRoles of the Picornaviral 3C Proteinase in the Viral Life Cycle and Host CellsPrion-like domains as epigenetic regulators, scaffolds for subcellular organization, and drivers of neurodegenerative diseaseToward precision medicine in amyotrophic lateral sclerosisThe Use of Stem Cells to Model Amyotrophic Lateral Sclerosis and Frontotemporal Dementia: From Basic Research to Regenerative MedicineGolgi Fragmentation in ALS Motor Neurons. New Mechanisms Targeting Microtubules, Tethers, and Transport VesiclesALS Patient Stem Cells for Unveiling Disease Signatures of Motoneuron Susceptibility: Perspectives on the Deadly Mitochondria, ER Stress and Calcium TriadAlterations in stress granule dynamics driven by TDP-43 and FUS: a link to pathological inclusions in ALS?Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia
P2860
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P2860
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
description
2008 nî lūn-bûn
@nan
2008 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի մարտին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
@ast
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
@en
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
@nl
type
label
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
@ast
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
@en
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
@nl
prefLabel
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
@ast
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
@en
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
@nl
P2093
P2860
P50
P3181
P356
P1433
P1476
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
@en
P2093
Boris Rogelj
Francisco Baralle
Garth Nicholson
J Douglas Mitchell
Jennifer C Durnall
Steven Ackerley
Vineeta B Tripathi
P2860
P304
P3181
P356
10.1126/SCIENCE.1154584
P407
P50
P577
2008-03-21T00:00:00Z