Disruption of ER‐mitochondria tethering and signalling in C9orf72 ‐associated amyotrophic lateral sclerosis and frontotemporal dementia

C9orf72-derived arginine-containing dipeptide repeats associate with axonal transport machinery and impede microtubule-based motility

(2021) Laura Fumagalli et al.   Science Advances

Ca2+ handling at the mitochondria-ER contact sites in neurodegeneration

(2021) Dmitry Lim et al.   CELL CALCIUM

Impairment of Mitochondrial Calcium Buffering Links Mutations in C9ORF72 and TARDBP in iPS-Derived Motor Neurons from Patients with ALS/FTD

(2020) Ruxandra Dafinca et al.   Stem Cell Reports

Nox4 regulates InsP 3 receptor‐dependent Ca 2+ release into mitochondria to promote cell survival

(2020) Matteo Beretta et al.   EMBO JOURNAL

C9orf72 loss-of-function: a trivial, stand-alone or additive mechanism in C9 ALS/FTD?

(2020) Elke Braems et al.   ACTA NEUROPATHOLOGICA

Disruption of endoplasmic reticulum-mitochondria tethering proteins in post-mortem Alzheimer's disease brain

(2020) Dawn H.W. Lau et al.   NEUROBIOLOGY OF DISEASE

The VAPB-PTPIP51 endoplasmic reticulum-mitochondria tethering proteins are present in neuronal synapses and regulate synaptic activity

(2019) Patricia Gómez-Suaga et al.   Acta Neuropathologica Communications

Genetic Convergence Brings Clarity to the Enigmatic Red Line in ALS

(2019) Casey Cook et al.   NEURON

LMTK2 binds to kinesin light chains to mediate anterograde axonal transport of cdk5/p35 and LMTK2 levels are reduced in Alzheimer’s disease brains

(2019) Gábor M. Mórotz et al.   Acta Neuropathologica Communications

IP3 receptor isoforms differently regulate ER-mitochondrial contacts and local calcium transfer

(2019) Adam Bartok et al.   Nature Communications

Endoplasmic Reticulum–Mitochondrial Contactology: Structure and Signaling Functions

(2018) György Csordás et al.   TRENDS IN CELL BIOLOGY

Disruption of ER−mitochondria signalling in fronto-temporal dementia and related amyotrophic lateral sclerosis

(2018) Dawn H. W. Lau et al.   Cell Death & Disease

C9orf72-mediated ALS and FTD: multiple pathways to disease

(2018) Rubika Balendra et al.   Nature Reviews Neurology

C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity

(2017) Youn-Bok Lee et al.   HUMAN MOLECULAR GENETICS

ER-mitochondria tethering by PDZD8 regulates Ca2+dynamics in mammalian neurons

(2017) Yusuke Hirabayashi et al.   SCIENCE

C9orf72 Dipeptide Repeats Impair the Assembly, Dynamics, and Function of Membrane-Less Organelles

(2016) Kyung-Ha Lee et al.   CELL

Mitochondria‐associated membrane collapse is a common pathomechanism in SIGMAR1 ‐ and SOD1 ‐linked ALS

(2016) Seiji Watanabe et al.   EMBO Molecular Medicine

ALS/FTD‐associated FUS activates GSK‐3β to disrupt the VAPB–PTPIP51 interaction and ER–mitochondria associations

(2016) Radu Stoica et al.   EMBO REPORTS

Loss-of-function mutations in theSIGMAR1gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+signalling

(2016) Elisa Gregianin et al.   HUMAN MOLECULAR GENETICS

Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs

(2016) Jie Jiang et al.   NEURON

C9orf72 Hexanucleotide Expansions Are Associated with Altered Endoplasmic Reticulum Calcium Homeostasis and Stress Granule Formation in Induced Pluripotent Stem Cell-Derived Neurons from Patients with Amyotrophic Lateral Sclerosis and Frontotemporal Demen

(2016) Ruxandra Dafinca et al.   STEM CELLS

There's Something Wrong with my MAM; the ER–Mitochondria Axis and Neurodegenerative Diseases

(2016) Sebastien Paillusson et al.   TRENDS IN NEUROSCIENCES

Dysfunction in endoplasmic reticulum-mitochondria crosstalk underlies SIGMAR1 loss of function mediated motor neuron degeneration

(2015) Nathalie Bernard-Marissal et al.   BRAIN

Antisense Proline-Arginine RAN Dipeptides Linked to C9ORF72-ALS/FTD Form Toxic Nuclear Aggregates that Initiate In Vitro and In Vivo Neuronal Death

(2014) Xinmei Wen et al.   NEURON

C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins

(2014) S. Mizielinska et al.   SCIENCE

Poly-dipeptides encoded by the C9orf72 repeats bind nucleoli, impede RNA biogenesis, and kill cells

(2014) I. Kwon et al.   SCIENCE

ER–mitochondria associations are regulated by the VAPB–PTPIP51 interaction and are disrupted by ALS/FTD-associated TDP-43

(2014) Radu Stoica et al.   Nature Communications

Loss of c-Jun N-terminal kinase-interacting protein-1 does not affect axonal transport of the amyloid precursor protein or Aβ production

(2013) Alessio Vagnoni et al.   HUMAN MOLECULAR GENETICS

Converging Mechanisms in ALS and FTD: Disrupted RNA and Protein Homeostasis

(2013) Shuo-Chien Ling et al.   NEURON

Modulation of the endoplasmic reticulum-mitochondria interface in Alzheimer's disease and related models

(2013) L. Hedskog et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mitochondrial Ca2+ signals in autophagy

(2012) César Cárdenas et al.   CELL CALCIUM

Endoplasmic reticulum–mitochondria contacts: function of the junction

(2012) Ashley A. Rowland et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

VAPB interacts with the mitochondrial protein PTPIP51 to regulate calcium homeostasis

(2011) Kurt J. De Vos et al.   HUMAN MOLECULAR GENETICS

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

(2011) Alan E. Renton et al.   NEURON

GSK-3: Functional Insights from Cell Biology and Animal Models

(2011) Oksana Kaidanovich-Beilin et al.   Frontiers in Molecular Neuroscience