Mitophagy in human diseases

L Doblado, C Lueck, C Rey, AK Samhan-Arias… - International journal of …, 2021 - mdpi.com
Mitophagy is a selective autophagic process, essential for cellular homeostasis, that
eliminates dysfunctional mitochondria. Activated by inner membrane depolarization, it plays …

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 …

RAC1 missense mutations in developmental disorders with diverse phenotypes

MRF Reijnders, NM Ansor, M Kousi, WW Yue… - The American Journal of …, 2017 - cell.com
RAC1 is a widely studied Rho GTPase, a class of molecules that modulate numerous
cellular functions essential for normal development. RAC1 is highly conserved across …

HECT E3 ubiquitin ligases–emerging insights into their biological roles and disease relevance

Y Wang, D Argiles-Castillo, EI Kane… - Journal of cell …, 2020 - journals.biologists.com
ABSTRACT Homologous to E6AP C-terminus (HECT) E3 ubiquitin ligases play a critical role
in various cellular pathways, including but not limited to protein trafficking, subcellular …

[HTML][HTML] Insight into the molecular genetics of myopia

J Li, Q Zhang - Molecular vision, 2017 - ncbi.nlm.nih.gov
Myopia is the most common cause of visual impairment worldwide. Genetic and
environmental factors contribute to the development of myopia. Studies on the molecular …

Pathophysiological mechanisms in neurodevelopmental disorders caused by Rac GTPases dysregulation: what's behind neuro-RACopathies

M Scala, M Nishikawa, K Nagata, P Striano - Cells, 2021 - mdpi.com
Rho family guanosine triphosphatases (GTPases) regulate cellular signaling and
cytoskeletal dynamics, playing a pivotal role in cell adhesion, migration, and cell cycle …

Structural mechanisms of autoinhibition and substrate recognition by the ubiquitin ligase HACE1

J Düring, M Wolter, JJ Toplak, C Torres… - Nature Structural & …, 2024 - nature.com
Ubiquitin ligases (E3s) are pivotal specificity determinants in the ubiquitin system by
selecting substrates and decorating them with distinct ubiquitin signals. However, structure …

Crosstalk between Rac1-mediated actin regulation and ROS production

A Acevedo, C González-Billault - Free Radical Biology and Medicine, 2018 - Elsevier
Abstract The small RhoGTPase Rac1 is implicated in a variety of events related to actin
cytoskeleton rearrangement. Remarkably, another event that is completely different from …

Neurodevelopmental disorders (NDD) caused by genomic alterations of the ubiquitin-proteasome system (UPS): the possible contribution of immune dysregulation to …

F Ebstein, S Küry, JJ Papendorf… - Frontiers in Molecular …, 2021 - frontiersin.org
Over thirty years have passed since the first description of ubiquitin-positive structures in the
brain of patients suffering from Alzheimer's disease. Meanwhile, the intracellular …

Genetic susceptibility to neuroblastoma: current knowledge and future directions

LE Ritenour, MP Randall, KR Bosse, SJ Diskin - Cell and tissue research, 2018 - Springer
Neuroblastoma, a malignancy of the developing peripheral nervous system that affects
infants and young children, is a complex genetic disease. Over the past two decades …