D.C. Rubinsztein

Meta-analysis of genetic association with diagnosed Alzheimer’s disease identifies novel risk loci and implicates Abeta, Tau, immunity and lipid processing

B K Kunkle, Benjamin Grenier‐Boley, Rebecca C. Sims, JC Bis et autres

Introduction Late-onset Alzheimer’s disease (LOAD, onset age > 60 years) is the most prevalent dementia in the elderly 1 , and risk is partially driven by genetics 2 . Many of the loci responsible for this genetic risk were identified by genome-wide …

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Genetically elevated high‐density lipoprotein cholesterol through the cholesteryl ester transfer protein gene does not associate with risk of Alzheimer's disease

Gina M. Peloso, Sven J. van der Lee, Rebecca C. Sims, S.J. van der Lee et autres

Abstract Introduction There is conflicting evidence whether high‐density lipoprotein cholesterol (HDL‐C) is a risk factor for Alzheimer's disease (AD) and dementia. Genetic variation in the cholesteryl ester transfer protein (CETP) locus is associated with altered HDL‐C. We aimed to assess AD risk …

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Yoshinori Ohsumi'S Nobel Prize for Mechanisms of Autophagy: From Basic Yeast Biology to Therapeutic Potential

Rebecca A. Frake, D.C. Rubinsztein

On 3 October 2016, Japanese cell biologist Yoshinori Ohsumi was awarded the Nobel Prize in Physiology or Medicine 'for his discoveries of mechanisms for autophagy'; autophagy being an intracellular degradation pathway that helps maintain cytoplasmic homeostasis. This commentary discusses Ohsumi's Nobel prize-winning …

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Vulnerability to loss of motivated action following acute tryptophan depletion: The role of allelic variation at the serotonin transporter gene

Jonathan Paul Roiser, Roshan Cools, Laura Ashley Clark, D.C. Rubinsztein et autres

Huntington's Disease

D.C. Rubinsztein

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The deleterious effect of polyglutamine aggregation in cell models of Huntington's disease.

D.C. Rubinsztein, Jenny Carmichael, Julia Rankin, Jean Chatellier et autres

A presenilin-1 truncating mutation causing Alzheimer's disease

Chris De Jonghe, Carolyn J. Tysoe, Marc Cruts, Inge Vanderhoeven et autres

Molecular Mechanisms of Dementia

D.C. Rubinsztein

The possibility that the loss of mutant alle- les is balanced by the transition of larger nor- mal ones into the lower DM range, which are more frequently found in DM males, should also be considered.Although our data are at variance with …

Issues in Huntington's disease testing.

D.C. Rubinsztein, David E. Barton, Malcolm Andrew Ferguson-Smith

The gene that is mutated in Huntington's disease has a polymorphic (CAG)n tract close to the 5' end of its message that is unstable and abnormally expanded in disease chromosomes. Rapid PCR tests that measure the CAG repeat number in this gene …