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Lysosome & C9orf72

Lysosome & C9orf72 diagram by Debjyoti Bandyopadhyay et al
Debjyoti Bandyopadhyay et al

This feed focuses on the C9orf72 protein and its possible role in lysosome function and implication in frontotemporal dementia and amyotrophic lateral sclerosis

Top 20 most recent papers
Alzheimer's & Dementia : the Journal of the Alzheimer's Association

The longitudinal evaluation of familial frontotemporal dementia subjects protocol: Framework and methodology

Alzheimer's & Dementia : the Journal of the Alzheimer's AssociationOctober 18, 2019
Bradley F. BoeveLEFFTDS Consortium
5
1
1
Acta Neuropathologica

Molecular characterization of histopathological ependymoma variants

Acta NeuropathologicaNovember 2, 2019
Julia E NeumannUlrich Schüller
5
1
Acta Neuropathologica

Neuroglial stem cell-derived inflammatory pseudotumor (n-SCIPT): clinicopathologic characterization of a novel lesion of the lumbosacral spinal cord and nerve roots following intrathecal allogeneic stem cell intervention

Acta NeuropathologicaOctober 28, 2019
Emily A SloanJohn W Engstrom
1
1
Acta Neuropathologica

4-Repeat tau seeds and templating subtypes as brain and CSF biomarkers of frontotemporal lobar degeneration

Acta NeuropathologicaOctober 16, 2019
Eri SaijoByron W Caughey
40
7
bioRxiv

Staufen 1 amplifies pro-apoptotic activation of the unfolded protein response.

bioRxivOctober 28, 2019
Mandi GandelmanStefan Matthias Pulst
9
The EMBO Journal

RNA toxicity in non-coding repeat expansion disorders

The EMBO JournalNovember 13, 2019
Bart SwinnenLudo Van Den Bosch
bioRxiv

Toxic PR poly-dipeptides encoded by the C9orf72 repeat expansion target Kapβ2 and dysregulate phase separation of low-complexity domains

bioRxivOctober 21, 2019
Hitoki NanauraEiichiro Mori
15
Acta Neuropathologica

Shortening heparan sulfate chains prolongs survival and reduces parenchymal plaques in prion disease caused by mobile, ADAM10-cleaved prions

Acta NeuropathologicaOctober 31, 2019
Patricia Aguilar-CalvoChristina J Sigurdson
3
2
1
Acta Neuropathologica

The histomolecular criteria established for adult anaplastic pilocytic astrocytoma are not applicable to the pediatric population

Acta NeuropathologicaNovember 1, 2019
A GaretonPascale Varlet
Acta Neuropathologica

Poly-glycine-alanine exacerbates C9orf72 repeat expansion-mediated DNA damage via sequestration of phosphorylated ATM and loss of nuclear hnRNPA3

Acta NeuropathologicaOctober 23, 2019
Yoshihiro NiheiChristian Haass
12
1
Neurobiology of Aging

White matter hyperintensities mediate the association between blood-brain barrier leakage and information processing speed

Neurobiology of AgingSeptember 27, 2019
Whitney M FreezeWalter H. Backes
Neurobiology of Aging

A mitochondrial uncoupler prodrug protects dopaminergic neurons and improves functional outcome in a mouse model of Parkinson's disease

Neurobiology of AgingSeptember 26, 2019
Yuki KishimotoMark P. Mattson
3
1
Acta Neuropathologica

NF1 patient missense variants predict a role for ATM in modifying neurofibroma initiation

Acta NeuropathologicaOctober 29, 2019
Yanan YuNancy Ratner
Brain : a Journal of Neurology

C9orf72 expansion within astrocytes reduces metabolic flexibility in amyotrophic lateral sclerosis

Brain : a Journal of NeurologyOctober 24, 2019
Scott P AllenPamela Jean Shaw
23
1
bioRxiv

C9orf72-derived arginine-containing dipeptide repeats associate with axonal transport machinery and impede microtubule-based motility

bioRxivNovember 8, 2019
Laura FumagalliPhilip Van Damme
53
Acta Neuropathologica

Proteomics in cerebrospinal fluid and spinal cord suggests UCHL1, MAP2 and GPNMB as biomarkers and underpins importance of transcriptional pathways in amyotrophic lateral sclerosis

Acta NeuropathologicaNovember 7, 2019
Patrick OecklMarkus Otto
1
1
Neurobiology of Aging

Amyloid burden and white matter hyperintensities mediate age-related cognitive differences

Neurobiology of AgingAugust 31, 2019
Pénélope S DupontSven Joubert
Acta Neuropathologica

Structural and functional conservation of non-lumenized lymphatic endothelial cells in the mammalian leptomeninges

Acta NeuropathologicaNovember 6, 2019
Shannon Shibata-GermanosJason Rihel
28
1
Acta Neuropathologica

Production of poly(GA) in C9ORF72 patient motor neurons derived from induced pluripotent stem cells

Acta NeuropathologicaOctober 17, 2019
Sandra AlmeidaFen-Biao Gao
2
1
Neurobiology of Aging

Functional maintenance in the multiple demand network characterizes superior fluid intelligence in aging

Neurobiology of AgingSeptember 20, 2019
Nianming ZuoTian-Zi Jiang
1

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