Connectome-based modelling of neurodegenerative diseases: towards precision medicine and mechanistic insight

JW Vogel, N Corriveau-Lecavalier… - Nature Reviews …, 2023 - nature.com
Neurodegenerative diseases are the most common cause of dementia. Although their
underlying molecular pathologies have been identified, there is substantial heterogeneity in …

Dementia in Down syndrome: unique insights for Alzheimer disease research

IT Lott, E Head - Nature Reviews Neurology, 2019 - nature.com
Virtually all adults with Down syndrome (DS) show the neuropathological changes of
Alzheimer disease (AD) by the age of 40 years. This association is partially due to …

Lysosomal dysfunction in Down syndrome and Alzheimer mouse models is caused by v-ATPase inhibition by Tyr682-phosphorylated APP βCTF

E Im, Y Jiang, PH Stavrides, S Darji… - Science …, 2023 - science.org
Lysosome dysfunction arises early and propels Alzheimer's disease (AD). Herein, we show
that amyloid precursor protein (APP), linked to early-onset AD in Down syndrome (DS), acts …

Basal forebrain cholinergic circuits and signaling in cognition and cognitive decline

EC Ballinger, M Ananth, DA Talmage, LW Role - Neuron, 2016 - cell.com
Recent work continues to place cholinergic circuits at center stage for normal executive and
mnemonic functioning and provides compelling evidence that the loss of cholinergic …

Brain‐derived neurotrophic factor, depression, and physical activity: making the neuroplastic connection

C Phillips - Neural plasticity, 2017 - Wiley Online Library
Brain‐derived neurotrophic factor (BDNF) is a neurotrophin that is vital to the survival,
growth, and maintenance of neurons in key brain circuits involved in emotional and …

Reimagining cholinergic therapy for Alzheimer's disease

E Giacobini, AC Cuello, A Fisher - Brain, 2022 - academic.oup.com
Currently, enhancement of cholinergic neurotransmission via cholinesterase inhibitors
represents the main available approach to treat cognitive and behavioural symptoms of the …

A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome

FK Wiseman, T Al-Janabi, J Hardy… - Nature Reviews …, 2015 - nature.com
Down syndrome, which arises in individuals carrying an extra copy of chromosome 21, is
associated with a greatly increased risk of early-onset Alzheimer disease. It is thought that …

[HTML][HTML] Amyloid precursor protein and endosomal–lysosomal dysfunction in Alzheimer's disease: inseparable partners in a multifactorial disease

RA Nixon - The FASEB Journal, 2017 - ncbi.nlm.nih.gov
Abnormalities of the endosomal–lysosomal network (ELN) are a signature feature of
Alzheimer's disease (AD). These include the earliest known cytopathology that is specific to …

Down syndrome: an insight of the disease

A Asim, A Kumar, S Muthuswamy, S Jain… - Journal of biomedical …, 2015 - Springer
Down syndrome (DS) is one of the commonest disorders with huge medical and social cost.
DS is associated with number of phenotypes including congenital heart defects, leukemia …

Down syndrome

SE Antonarakis, BG Skotko, MS Rafii… - Nature Reviews …, 2020 - nature.com
Trisomy 21, the presence of a supernumerary chromosome 21, results in a collection of
clinical features commonly known as Down syndrome (DS). DS is among the most …