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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 …
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 …
role in eliciting seizures. Among glutamate receptors, the roles of N-methyl-D-aspartate …
Rab GTPases and membrane trafficking in neurodegeneration
Defects in membrane trafficking are hallmarks of neurodegeneration. Rab GTPases are key
regulators of membrane trafficking. Alterations of Rab GTPases, or the membrane …
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 …
Dysregulation of early neurodevelopment is implicated in macrocephaly/autism disorders.
However, the mechanism underlying this dysregulation, particularly in human cells, remains …
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 …
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 …
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
Mutations in leucine-rich repeat kinase 2 (LRRK2) cause autosomal dominant familial
Parkinson's disease (PD), with pathogenic mutations enhancing LRRK2 kinase activity …
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
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 …
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 …
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
Exosomes are small extracellular vesicles that originate from the intraluminal vesicles of
multivesicular bodies (MVBs). We previously reported that polarized Madin-Darby canine …
multivesicular bodies (MVBs). We previously reported that polarized Madin-Darby canine …