[HTML][HTML] Biological functions of autophagy genes: a disease perspective

B Levine, G Kroemer - Cell, 2019 - cell.com
The lysosomal degradation pathway of autophagy plays a fundamental role in cellular,
tissue, and organismal homeostasis and is mediated by evolutionarily conserved autophagy …

[HTML][HTML] Genetic aberrations in macroautophagy genes leading to diseases

N van Beek, DJ Klionsky, F Reggiori - Biochimica et Biophysica Acta (BBA) …, 2018 - Elsevier
The catabolic process of macroautophagy, through the rapid degradation of unwanted
cellular components, is involved in a multitude of cellular and organismal functions that are …

Minimized combinatorial CRISPR screens identify genetic interactions in autophagy

V Diehl, M Wegner, P Grumati, K Husnjak… - Nucleic acids …, 2021 - academic.oup.com
Combinatorial CRISPR-Cas screens have advanced the mapping of genetic interactions,
but their experimental scale limits the number of targetable gene combinations. Here, we …

Multisystem proteinopathy: where myopathy and motor neuron disease converge

MK Korb, VE Kimonis, T Mozaffar - Muscle & Nerve, 2021 - Wiley Online Library
Multisystem proteinopathy (MSP) is a pleiotropic group of inherited disorders that cause
neurodegeneration, myopathy, and bone disease, and share common pathophysiology …

Autophagopathies: from autophagy gene polymorphisms to precision medicine for human diseases

I Grosjean, B Roméo, MA Domdom, A Belaid… - Autophagy, 2022 - Taylor & Francis
At a time when complex diseases affect globally 280 million people and claim 14 million
lives every year, there is an urgent need to rapidly increase our knowledge into their …

Paget's disease: a review of the epidemiology, etiology, genetics, and treatment

B Banaganapalli, I Fallatah, F Alsubhi, PJ Shetty… - Frontiers in …, 2023 - frontiersin.org
Paget's disease of bone (PDB) is the second most prevalent metabolic bone disorder
worldwide, with a prevalence rate of 1.5%–8.3%. It is characterized by localized areas of …

Paget's disease of bone: Osteoimmunology and osteoclast pathology

EM Rabjohns, K Hurst, A Ghosh, MC Cuellar… - Current allergy and …, 2021 - Springer
Abstract Purpose of Review The purpose of this review is to recognize clinical features of
Paget's disease of bone and to describe how the osteoclast, a myeloid-derived cell …

Deficiency of optineurin enhances osteoclast differentiation by attenuating the NRF2-mediated antioxidant response

P Xue, X Hu, E Chang, L Wang, M Chen… - … & molecular medicine, 2021 - nature.com
Abnormally increased resorption contributes to bone degenerative diseases such as Paget's
disease of bone (PDB) through unclear mechanisms. Recently, the optineurin (OPTN) gene …

Pathogenic single nucleotide polymorphisms on autophagy-related genes

I Tamargo-Gómez, ÁF Fernández, G Mariño - International Journal of …, 2020 - mdpi.com
In recent years, the study of single nucleotide polymorphisms (SNPs) has gained increasing
importance in biomedical research, as they can either be at the molecular origin of a …

Genetic defects of autophagy linked to disease

M Fraiberg, Z Elazar - Progress in Molecular Biology and Translational …, 2020 - Elsevier
Autophagy is a highly conserved lysosomal degradation pathway responsible for rapid
elimination of unwanted cytoplasmic materials in response to stressful conditions. This …