[HTML][HTML] Biological functions of autophagy genes: a disease perspective
The lysosomal degradation pathway of autophagy plays a fundamental role in cellular,
tissue, and organismal homeostasis and is mediated by evolutionarily conserved autophagy …
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 …
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 …
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 …
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 …
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
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 …
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 …
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
Abnormally increased resorption contributes to bone degenerative diseases such as Paget's
disease of bone (PDB) through unclear mechanisms. Recently, the optineurin (OPTN) gene …
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 …
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 …
elimination of unwanted cytoplasmic materials in response to stressful conditions. This …