[HTML][HTML] Autophagy in healthy aging and disease

Y Aman, T Schmauck-Medina, M Hansen, RI Morimoto… - Nature aging, 2021 - nature.com
Autophagy is a fundamental cellular process that eliminates molecules and subcellular
elements, including nucleic acids, proteins, lipids and organelles, via lysosome-mediated …

Autophagy as a promoter of longevity: insights from model organisms

M Hansen, DC Rubinsztein, DW Walker - Nature reviews Molecular cell …, 2018 - nature.com
Autophagy is a conserved process that catabolizes intracellular components to maintain
energy homeostasis and to protect cells against stress. Autophagy has crucial roles during …

[HTML][HTML] Autophagy and human diseases

P Jiang, N Mizushima - Cell research, 2014 - nature.com
Autophagy is a major intracellular degradative process that delivers cytoplasmic materials to
the lysosome for degradation. Since the discovery of autophagy-related (Atg) genes in the …

[PDF][PDF] De novo gene disruptions in children on the autistic spectrum

I Iossifov, M Ronemus, D Levy, Z Wang, I Hakker… - Neuron, 2012 - cell.com
Exome sequencing of 343 families, each with a single child on the autism spectrum and at
least one unaffected sibling, reveal de novo small indels and point substitutions, which come …

N omenclature of genetic movement disorders: R ecommendations of the international P arkinson and movement disorder society task force

C Marras, A Lang, BP van de Warrenburg… - Movement …, 2016 - Wiley Online Library
The system of assigning locus symbols to specify chromosomal regions that are associated
with a familial disorder has a number of problems when used as a reference list of …

Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms

JK Fink - Acta neuropathologica, 2013 - Springer
Hereditary spastic paraplegia (HSP) is a syndrome designation describing inherited
disorders in which lower extremity weakness and spasticity are the predominant symptoms …

[HTML][HTML] Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms

TL Giudice, F Lombardi, FM Santorelli, T Kawarai… - Experimental …, 2014 - Elsevier
Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous
neurological disorders characterized by pathophysiologic hallmark of length-dependent …

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 …

[HTML][HTML] Axonal transport defects and neurodegeneration: molecular mechanisms and therapeutic implications

W Guo, KS Dittlau, L Van Den Bosch - Seminars in cell & developmental …, 2020 - Elsevier
Because of the extremely polarized morphology, the proper functioning of neurons largely
relies on the efficient cargo transport along the axon. Axonal transport defects have been …

[HTML][HTML] An integrated approach to uncover drivers of cancer

UD Akavia, O Litvin, J Kim, F Sanchez-Garcia, D Kotliar… - Cell, 2010 - cell.com
Systematic characterization of cancer genomes has revealed a staggering number of
diverse aberrations that differ among individuals, such that the functional importance and …