[PDF][PDF] A reference human induced pluripotent stem cell line for large-scale collaborative studies

…, AC Raulin, G Bu, A Held, BJ Wainger, RMC Gabriele… - Cell Stem Cell, 2022 - cell.com
Human induced pluripotent stem cell (iPSC) lines are a powerful tool for studying
development and disease, but the considerable phenotypic variation between lines makes it …

[HTML][HTML] Knockdown of amyloid precursor protein: biological consequences and clinical opportunities

RMC Gabriele, E Abel, NC Fox, S Wray… - Frontiers in …, 2022 - frontiersin.org
Amyloid precursor protein (APP) and its cleavage fragment Amyloid-β (Aβ) have fundamental
roles in Alzheimer’s disease (AD). Genetic alterations that either increase the overall …

[HTML][HTML] Motor Deficits and Cerebellar Atrophy in Elovl5 Knock Out Mice

E Hoxha, RMC Gabriele, I Balbo, F Ravera… - Frontiers in cellular …, 2017 - frontiersin.org
Spino-Cerebellar-Ataxia type 38 (SCA38) is caused by missense mutations in the very long
chain fatty acid elongase 5 gene, ELOVL5. The main clinical findings in this disease are …

Bridging integrator 1 protein loss in Alzheimer's disease promotes synaptic tau accumulation and disrupts tau release

EB Glennon, DHW Lau, RMC Gabriele… - Brain …, 2020 - academic.oup.com
Polymorphisms associated with BIN1 (bridging integrator 1) confer the second greatest risk
for developing late-onset Alzheimer’s disease. The biological consequences of this genetic …

Loss of the Alzheimer's-linked bridging integrator 1 (BIN1) protein affects synaptic structure and disrupts tau localisation and release

EB Glennon, DHW Lau, RMC Gabriele, MF Taylor… - bioRxiv, 2019 - biorxiv.org
Background Post-translational modifications of tau modify its interaction with binding partners
and cause tau mislocalisation and altered tau function in Alzheimer’s disease (AD). The …

[PDF][PDF] BRAIN COMMUNICATIONS AIN COMMUNICATIONS

EB Glennon, DHW Lau, RMC Gabriele, MF Taylor… - core.ac.uk
Tauopathies including Alzheimer’s disease are characterized by tau protein modifications
that affect normal tau interactions and localization and lead to the development of …

[PDF][PDF] BIN1 protein loss in Alzheimer's disease promotes synaptic tau accumulation and disrupts tau release

EB Glennon, DHW Lau, RMC Gabriele, MF Taylor… - kclpure.kcl.ac.uk
Polymorphisms associated with BIN1 confer the second greatest risk for developing late
onset Alzheimer’s disease. The biological consequences of this genetic variation are not fully …

In vivo roles of BamA, BamB and BamD in the biogenesis of BamA, a core protein of the β-barrel assembly machine of Escherichia coli

R Misra, R Stikeleather, R Gabriele - Journal of molecular biology, 2015 - Elsevier
Assembly of the β-barrel outer membrane proteins (OMPs) is an essential cellular process
in Gram-negative bacteria and in the mitochondria and chloroplasts of eukaryotes—two …

The presenilin 1 mutation P436S causes familial Alzheimer's disease with elevated Aβ43 and atypical clinical manifestations

C Arber, CRS Belder, F Tomczuk, R Gabriele… - medRxiv, 2023 - medrxiv.org
Background: Familial Alzheimer's disease (fAD) is heterogeneous in terms of age at onset
and clinical presentation. A greater understanding of the pathogenicity of fAD variants and …

Impacts of Hurricanes Katrina and Rita on the microbial landscape of the New Orleans area

…, LE Fleming, HM Solo-Gabriele - Proceedings of the …, 2007 - National Acad Sciences
Floodwaters in New Orleans from Hurricanes Katrina and Rita were observed to contain high
levels of fecal indicator bacteria and microbial pathogens, generating concern about long-…