Disruption of axonal transport in neurodegeneration

SH Berth, TE Lloyd - The Journal of Clinical Investigation, 2023 - Am Soc Clin Investig
Neurons are markedly compartmentalized, which makes them reliant on axonal transport to
maintain their health. Axonal transport is important for anterograde delivery of newly …

Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy

N Suzuki, A Nishiyama, H Warita, M Aoki - Journal of human genetics, 2023 - nature.com
Amyotrophic lateral sclerosis (ALS) is an intractable disease that causes respiratory failure
leading to mortality. The main locus of ALS is motor neurons. The success of antisense …

Deficient endoplasmic reticulum-mitochondrial phosphatidylserine transfer causes liver disease

MI Hernández-Alvarez, D Sebastián, S Vives… - Cell, 2019 - cell.com
Non-alcoholic fatty liver is the most common liver disease worldwide. Here, we show that the
mitochondrial protein mitofusin 2 (Mfn2) protects against liver disease. Reduced Mfn2 …

Small molecule agonist of mitochondrial fusion repairs mitochondrial dysfunction

Y Guo, H Zhang, C Yan, B Shen, Y Zhang… - Nature chemical …, 2023 - nature.com
Membrane dynamics are important to the integrity and function of mitochondria. Defective
mitochondrial fusion underlies the pathogenesis of multiple diseases. The ability to target …

Mitochondrial function in development and disease

MP Rossmann, SM Dubois… - Disease models & …, 2021 - journals.biologists.com
Mitochondria are organelles with vital functions in almost all eukaryotic cells. Often
described as the cellular 'powerhouses' due to their essential role in aerobic oxidative …

Axonal endoplasmic reticulum dynamics and its roles in neurodegeneration

Z Öztürk, CJ O'Kane, JJ Pérez-Moreno - Frontiers in neuroscience, 2020 - frontiersin.org
The physical continuity of axons over long cellular distances poses challenges for their
maintenance. One organelle that faces this challenge is endoplasmic reticulum (ER); unlike …

Cellular senescence links mitochondria-ER contacts and aging

DV Ziegler, N Martin, D Bernard - Communications Biology, 2021 - nature.com
Membrane contact sites emerged in the last decade as key players in the integration,
regulation and transmission of many signals within cells, with critical impact in multiple …

TDP-43 proteinopathy and mitochondrial abnormalities in neurodegeneration

J Gao, L Wang, T Yan, G Perry, X Wang - Molecular and Cellular …, 2019 - Elsevier
Genetic mutations in TAR DNA-binding protein 43 (TDP-43) cause amyotrophic lateral
sclerosis (ALS) and frontotemporal dementia (FTD). Importantly, TDP-43 proteinopathy …

MFN2 mutations in Charcot–Marie–Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics

D Larrea, M Pera, A Gonnelli… - Human molecular …, 2019 - academic.oup.com
Abstract Charcot–Marie–Tooth disease (CMT) type 2A is a form of peripheral neuropathy,
due almost exclusively to dominant mutations in the nuclear gene encoding the …

Contribution of proteases to the hallmarks of aging and to age‐related neurodegeneration

M Rai, M Curley, Z Coleman, F Demontis - Aging Cell, 2022 - Wiley Online Library
Protein quality control ensures the degradation of damaged and misfolded proteins.
Derangement of proteostasis is a primary cause of aging and age‐associated diseases. The …