C9ORF72: what it is, what it does, and why it matters

J Smeyers, EG Banchi, M Latouche - Frontiers in cellular …, 2021 - frontiersin.org
When the non-coding repeat expansion in the C9ORF72 gene was discovered to be the
most frequent cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis …

[HTML][HTML] Ionotropic glutamate receptors in epilepsy: a review focusing on AMPA and NMDA receptors

T Hanada - Biomolecules, 2020 - mdpi.com
It is widely accepted that glutamate-mediated neuronal hyperexcitation plays a causative
role in eliciting seizures. Among glutamate receptors, the roles of N-methyl-D-aspartate …

Rab GTPases and membrane trafficking in neurodegeneration

FR Kiral, FE Kohrs, EJ **, PR Hiesinger - Current Biology, 2018 - cell.com
Defects in membrane trafficking are hallmarks of neurodegeneration. Rab GTPases are key
regulators of membrane trafficking. Alterations of Rab GTPases, or the membrane …

Cerebral organoid and mouse models reveal a RAB39b–PI3K–mTOR pathway-dependent dysregulation of cortical development leading to macrocephaly/autism …

W Zhang, L Ma, M Yang, Q Shao, J Xu… - Genes & …, 2020 - genesdev.cshlp.org
Dysregulation of early neurodevelopment is implicated in macrocephaly/autism disorders.
However, the mechanism underlying this dysregulation, particularly in human cells, remains …

The role of Ca2+ signaling in Parkinson's disease

SV Zaichick, KM McGrath… - Disease models & …, 2017 - journals.biologists.com
Across all kingdoms in the tree of life, calcium (Ca2+) is an essential element used by cells
to respond and adapt to constantly changing environments. In multicellular organisms, it …

Membrane trafficking in health and disease

R Yarwood, J Hellicar… - Disease models & …, 2020 - journals.biologists.com
Membrane trafficking pathways are essential for the viability and growth of cells, and play a
major role in the interaction of cells with their environment. In this At a Glance article and …

LRRK2 and the Endolysosomal System in Parkinson's Disease

ML Erb, DJ Moore - Journal of Parkinson's Disease, 2020 - journals.sagepub.com
Mutations in leucine-rich repeat kinase 2 (LRRK2) cause autosomal dominant familial
Parkinson's disease (PD), with pathogenic mutations enhancing LRRK2 kinase activity …

Structural model of the dimeric Parkinson's protein LRRK2 reveals a compact architecture involving distant interdomain contacts

G Guaitoli, F Raimondi, BK Gilsbach… - Proceedings of the …, 2016 - pnas.org
Leucine-rich repeat kinase 2 (LRRK2) is a large, multidomain protein containing two
catalytic domains: a Ras of complex proteins (Roc) G-domain and a kinase domain …

[HTML][HTML] Rab GTPases: switching to human diseases

NA Guadagno, C Progida - Cells, 2019 - mdpi.com
Rab proteins compose the largest family of small GTPases and control the different steps of
intracellular membrane traffic. More recently, they have been shown to also regulate cell …

Rab39 and its effector UACA regulate basolateral exosome release from polarized epithelial cells

T Matsui, Y Sakamaki, S Nakashima, M Fukuda - Cell Reports, 2022 - cell.com
Exosomes are small extracellular vesicles that originate from the intraluminal vesicles of
multivesicular bodies (MVBs). We previously reported that polarized Madin-Darby canine …