Associated Papers
Navigating the Autophagy Maze: ATG and Their Impact on Neurodegenerative Diseases.
Amirian R et al.
Molecular Neurobiology, 2025
Inborn errors of canonical autophagy in neurodegenerative diseases.
Freisem D et al.
Human Molecular Genetics, 2025
KEAP1 retention in phase-separated p62 bodies drives liver damage under autophagy-deficient conditions.
Takada S et al.
Embo Reports, 2025
Validation of a comprehensive long-read sequencing platform for broad clinical genetic diagnosis.
Sen S et al.
Frontiers in Genetics, 2025
Identification of novel variants underlying non-syndromic primary ovarian insufficiency using a targeted NGS gene panel.
Veneziano C et al.
Frontiers in Endocrinology, 2025
Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.
Villa M et al.
British Journal of Cancer, 2024
Genetics of Metabolic Dysfunction-associated Steatotic Liver Disease: The State of the Art Update.
Sookoian S et al.
Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association, 2024
The contribution of genetics and epigenetics to MAFLD susceptibility.
Moretti V et al.
Hepatology International, 2024
Advancing personalized medicine in neurodegenerative diseases: The role of epigenetics and pharmacoepigenomics in pharmacotherapy.
Griñán-Ferré C et al.
Pharmacological Research, 2024
AutoGVP: a dockerized workflow integrating ClinVar and InterVar germline sequence variant classification.
Kim J et al.
Bioinformatics (oxford, England), 2024
Mutation of autophagy-related gene ATG7 increases the risk of severe disease in patients with non-alcoholic fatty liver disease.
Waye MMY
Liver Research (beijing, China), 2023
Autophagopathies: from autophagy gene polymorphisms to precision medicine for human diseases.
Grosjean I et al.
Autophagy, 2022
Reply to: "Lack of hepatic autophagy promotes severity of liver injury but not steatosis": ATG7 genetic variants behave as fatty liver disease progression modifiers.
Baselli G et al.
Journal of Hepatology, 2022
Rare ATG7 genetic variants predispose patients to severe fatty liver disease.
Baselli GA et al.
Journal of Hepatology, 2022
Germline variants of ATG7 in familial cholangiocarcinoma alter autophagy and p62.
Greer SU et al.
Scientific Reports, 2022
A PIAS1 Protective Variant S510G Delays polyQ Disease Onset by Modifying Protein Homeostasis.
Lee YH et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
A novel region within a conserved domain in ATG7 emerged in vertebrates.
Hjaltalin VJ et al.
Autophagy Reports, 2022
Macroautophagy and Mitophagy in Neurodegenerative Disorders: Focus on Therapeutic Interventions.
Magalhães JD et al.
Biomedicines, 2021
Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses.
van Deuren RC et al.
Genome Medicine, 2021
Associations of ATG7 rs1375206 polymorphism and elevated plasma ATG7 levels with late-onset sporadic Parkinson's disease in a cohort of Han Chinese from southern China.
Zhao X et al.
The International Journal of Neuroscience, 2020
Functional variants of the ATG7 gene promoter in acute myocardial infarction.
Zhang P et al.
Molecular Genetics & Genomic Medicine, 2018
Advances in the discovery of genetic risk factors for complex forms of neurodegenerative disorders: contemporary approaches, success, challenges and prospects.
Kumar S et al.
Journal of Genetics, 2018
Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.
Bakhchane A et al.
Plos One, 2017
Pooled sequencing of 531 genes in inflammatory bowel disease identifies an associated rare variant in BTNL2 and implicates other immune related genes.
Prescott NJ et al.
Plos Genetics, 2015
The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients.
Metzger S et al.
Plos One, 2013
Genetics and neuropathology of Huntington's disease.
Reiner A et al.
International Review of Neurobiology, 2011
Autophagy in neurodegenerative disorders: pathogenic roles and therapeutic implications.
Banerjee R et al.
Trends in Neurosciences, 2010
Novel genetic variants potentially associated with the pathogenesis of coronary artery aneurysm: whole-exome sequencing analysis.
Iwańczyk S et al.
Hellenic Journal of Cardiology : Hjc = Hellenike Kardiologike Epitheorese, 0