Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion. - Wikidata - awgldk - TriplyDB

Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion.

Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion.

http://www.wikidata.org/entity/Q36464731

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The ubiquilin gene family: evolutionary patterns and functional insights C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS The genetics and neuropathology of frontotemporal lobar degeneration From animal models to human disease: a genetic approach for personalized medicine in ALS Inside out: the role of nucleocytoplasmic transport in ALS and FTLD Cognitive and behavioral features of c9FTD/ALS Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis The homozygote VCP(R¹⁵⁵H/R¹⁵⁵H) mouse model exhibits accelerated human VCP-associated disease pathology TDP-43 Proteinopathy and ALS: Insights into Disease Mechanisms and Therapeutic Targets.Frontotemporal dementia: a bridge between dementia and neuromuscular disease Hippocampal sclerosis dementia with the C9ORF72 hexanucleotide repeat expansion Atypical Alzheimer's disease in an elderly United States resident with amyotrophic lateral sclerosis and pathological tau in spinal motor neurons.Myelin oligodendrocyte basic protein and prognosis in behavioral-variant frontotemporal dementia.Poly-A binding protein-1 localization to a subset of TDP-43 inclusions in amyotrophic lateral sclerosis occurs more frequently in patients harboring an expansion in C9orf72 Positive florbetapir PET amyloid imaging in a subject with frequent cortical neuritic plaques and frontotemporal lobar degeneration with TDP43-positive inclusions.ALS-Plus syndrome: non-pyramidal features in a large ALS cohort.Genetic heterogeneity of amyotrophic lateral sclerosis: implications for clinical practice and research.Dendritic spinopathy in transgenic mice expressing ALS/dementia-linked mutant UBQLN2.Genetic overlap between apparently sporadic motor neuron diseases.Conserved acidic amino acid residues in a second RNA recognition motif regulate assembly and function of TDP-43.Association of UBQLN1 mutation with Brown-Vialetto-Van Laere syndrome but not typical ALS.Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier.Ubiquilin 2 is not associated with tau pathology Clinicopathologic report of ocular involvement in ALS patients with C9orf72 mutation Early detection of structural abnormalities and cytoplasmic accumulation of TDP-43 in tissue-engineered skins derived from ALS patients Drosha inclusions are new components of dipeptide-repeat protein aggregates in FTLD-TDP and ALS C9orf72 expansion cases Frontotemporal lobar degeneration: defining phenotypic diversity through personalized medicine.TDP-43 pathology and neuronal loss in amyotrophic lateral sclerosis spinal cord C9orf72 promoter hypermethylation is neuroprotective: Neuroimaging and neuropathologic evidence.Semi-automated quantification of C9orf72 expansion size reveals inverse correlation between hexanucleotide repeat number and disease duration in frontotemporal degeneration Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers.Mechanisms of disease in frontotemporal lobar degeneration: gain of function versus loss of function effects Differential recruitment of UBQLN2 to nuclear inclusions in the polyglutamine diseases HD and SCA3.Dystrophic neurites express C9orf72 in Alzheimer's disease brains.TDP-43 skeins show properties of amyloid in a subset of ALS cases.Cognitive decline and reduced survival in C9orf72 expansion frontotemporal degeneration and amyotrophic lateral sclerosis.Distinct TDP-43 pathology in ALS patients with ataxin 2 intermediate-length polyQ expansions.Tau pathology in frontotemporal lobar degeneration with C9ORF72 hexanucleotide repeat expansion Advances in understanding the molecular basis of frontotemporal dementia.

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P2860

Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion.

http://www.wikidata.org/entity/Q36464731

description

2012 nî lūn-bûn

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2012年の論文

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年學術文章

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2012年學術文章

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2012年學術文章

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name

Pattern of ubiquilin pathology ...... RF72 hexanucleotide expansion.

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Pattern of ubiquilin pathology ...... RF72 hexanucleotide expansion.

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Pattern of ubiquilin pathology ...... RF72 hexanucleotide expansion.

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Pattern of ubiquilin pathology ...... RF72 hexanucleotide expansion.

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Pattern of ubiquilin pathology ...... RF72 hexanucleotide expansion.

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Pattern of ubiquilin pathology ...... RF72 hexanucleotide expansion.

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S00401-012-0970-Z

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Acta Neuropathologica

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Pattern of ubiquilin pathology ...... RF72 hexanucleotide expansion.

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P2093

David J Irwin

http://www.w3.org/2001/XMLSchema#string

Edward B Lee

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Johannes Brettschneider

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John L Robinson

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Jon B Toledo

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Laura Molina-Porcel

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Lauren Elman

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Leo McCluskey

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Linda Kwong

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Mervyn J Monteiro

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P2860

Identification of ubiquilin, a novel presenilin interactor that increases presenilin protein accumulation

Ubiquilin interacts with ubiquitylated proteins and proteasome through its ubiquitin-associated and ubiquitin-like domains

Alzheimer's disease-associated ubiquilin-1 regulates presenilin-1 accumulation and aggresome formation

Ubiquilin functions in autophagy and is degraded by chaperone-mediated autophagy

Ubiquilin and p97/VCP bind erasin, forming a complex involved in ERAD

Ubiquilin regulates presenilin endoproteolysis and modulates gamma-secretase components, Pen-2 and nicastrin

Classification of primary progressive aphasia and its variants

Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

A harmonized classification system for FTLD-TDP pathology

P2888

s00401-012-0970-z

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825-839

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scholarly article

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10.1007/S00401-012-0970-Z

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6

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123

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John Q. Trojanowski

Murray Grossman

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2012-03-18T00:00:00Z

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22426854

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amyotrophic lateral sclerosis

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3521561

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