Autophagic lysosome reformation in health and disease

R Nanayakkara, R Gurung, SJ Rodgers, MJ Eramo… - Autophagy, 2023 - Taylor & Francis
Lysosomes are the primary degradative compartment within cells and there have been
significant advances over the past decade toward understanding how lysosome …

Hereditary spastic paraplegia: clinical and genetic hallmarks

PVS de Souza, WBV de Rezende Pinto… - The Cerebellum, 2017 - Springer
Hereditary spastic paraplegia comprises a wide and heterogeneous group of inherited
neurodegenerative and neurodevelopmental disorders resulting from primary retrograde …

Mass photometry enables label-free tracking and mass measurement of single proteins on lipid bilayers

EDB Foley, MS Kushwah, G Young, P Kukura - Nature Methods, 2021 - nature.com
The quantification of membrane-associated biomolecular interactions is crucial to our
understanding of various cellular processes. State-of-the-art single-molecule approaches …

Insights into clinical, genetic, and pathological aspects of hereditary spastic paraplegias: a comprehensive overview

LEO Elsayed, IZ Eltazi, AE Ahmed… - Frontiers in Molecular …, 2021 - frontiersin.org
Hereditary spastic paraplegias (HSP) are a heterogeneous group of motor
neurodegenerative disorders that have the core clinical presentation of pyramidal syndrome …

Structural insights into the mechanism of dynamin superfamily proteins

JR Jimah, JE Hinshaw - Trends in Cell Biology, 2019 - cell.com
Dynamin superfamily proteins (DSPs) mediate membrane fission and fusion necessary for
endocytosis, organelle biogenesis and maintenance, as well as for bacterial cytokinesis …

Epigenetics in amyotrophic lateral sclerosis: a role for histone post-translational modifications in neurodegenerative disease

SA Bennett, R Tanaz, SN Cobos, MP Torrente - Translational research, 2019 - Elsevier
Amyotrophic lateral sclerosis (ALS) is the third most common adult onset neurodegenerative
disorder worldwide. It is generally characterized by progressive paralysis starting at the …

[HTML][HTML] Hereditary spastic paraplegia overview

P Hedera - 2021 - europepmc.org
Hereditary Spastic Paraplegia Overview - Abstract - Europe PMC Sign in | Create an account
https://orcid.org Europe PMC Menu About Tools Developers Help Contact us Helpdesk …

[HTML][HTML] Pleckstrin Homology [PH] domain, structure, mechanism, and contribution to human disease

G Powis, EJ Meuillet, M Indarte, G Booher… - Biomedicine & …, 2023 - Elsevier
The pleckstrin homology [PH] domain is a structural fold found in more than 250 proteins
making it the 11th most common domain in the human proteome. 25% of family members …

Hereditary ataxias and paraparesias: clinical and genetic update

L Parodi, G Coarelli, G Stevanin, A Brice… - Current opinion in …, 2018 - journals.lww.com
The increase of HSPs and HCAs-related phenotypes and the continuous discovery of genes
complicate clinical diagnostic in practice but, at the same time, it helps highlighting common …

BIN1 modulation in vivo rescues dynamin-related myopathy

VM Lionello, C Kretz, E Edelweiss… - Proceedings of the …, 2022 - National Acad Sciences
The mechanoenzyme dynamin 2 (DNM2) is crucial for intracellular organization and
trafficking. DNM2 is mutated in dominant centronuclear myopathy (DNM2-CNM), a muscle …