Cargando…

Systematic Functional Analysis of PINK1 and PRKN Coding Variants

Loss of either PINK1 or PRKN causes an early onset Parkinson’s disease (PD) phenotype. Functionally, PINK1 and PRKN work together to mediate stress-activated mitochondrial quality control. Upon mitochondrial damage, PINK1, a ubiquitin kinase and PRKN, a ubiquitin ligase, decorate damaged organelles...

Descripción completa

Detalles Bibliográficos
Autores principales:	Broadway, Benjamin J., Boneski, Paige K., Bredenberg, Jenny M., Kolicheski, Ana, Hou, Xu, Soto-Beasley, Alexandra I., Ross, Owen A., Springer, Wolfdieter, Fiesel, Fabienne C.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9367835/ https://www.ncbi.nlm.nih.gov/pubmed/35954270 http://dx.doi.org/10.3390/cells11152426

Ejemplares similares

Alpha‐synuclein‐associated changes in PINK1‐PRKN‐mediated mitophagy are disease context dependent
por: Hou, Xu, et al.
Publicado: (2023)

Substitution of PINK1 Gly411 modulates substrate receptivity and turnover
por: Fiesel, Fabienne C, et al.
Publicado: (2022)

PINK1, Parkin, and Mitochondrial Quality Control: What can we Learn about Parkinson’s Disease Pathobiology?
por: Truban, Dominika, et al.
Publicado: (2017)

Mitochondrial targeted HSP90 inhibitor Gamitrinib-TPP (G-TPP) induces PINK1/Parkin-dependent mitophagy
por: Fiesel, Fabienne C., et al.
Publicado: (2017)

Phosphorylation by PINK1 Releases the UBL Domain and Initializes the Conformational Opening of the E3 Ubiquitin Ligase Parkin
por: Caulfield, Thomas R., et al.
Publicado: (2014)

Mitochondrial damage-associated inflammation highlights biomarkers in PRKN/PINK1 parkinsonism
por: Borsche, Max, et al.
Publicado: (2020)

Rare and novel variants of PRKN and PINK1 genes in Vietnamese patients with early‐onset Parkinson’s disease
por: Ton, Nguyen Dang, et al.
Publicado: (2020)

Early-Onset Parkinson Disease Screening in Patients From Nigeria
por: Milanowski, Lukasz M., et al.
Publicado: (2021)

miR-27a and miR-27b regulate autophagic clearance of damaged mitochondria by targeting PTEN-induced putative kinase 1 (PINK1)
por: Kim, Jaekwang, et al.
Publicado: (2016)

Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson’s disease
por: Trinh, Joanne, et al.
Publicado: (2022)

The PINK1 p.I368N mutation affects protein stability and ubiquitin kinase activity
por: Ando, Maya, et al.
Publicado: (2017)

Hexokinases link DJ-1 to the PINK1/parkin pathway
por: Hauser, David N., et al.
Publicado: (2017)

Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2
por: Bras, Jose, et al.
Publicado: (2008)

Early-Onset Parkinson’s Disease: Creating the Right Environment for a Genetic Disorder
por: Kolicheski, Ana, et al.
Publicado: (2022)

Comment on “mt-Keima detects PINK1-PRKN mitophagy in vivo with greater sensitivity than mito-QC”
por: Ganley, Ian G., et al.
Publicado: (2021)

Analysis of PRKN Variants and Clinical Features in Polish Patients with Parkinson’s Disease
por: Oczkowska, Anna, et al.
Publicado: (2015)

Two Different PRKN Compound Heterozygous Variants Combinations in the Same Family
por: Biehler, Margaux, et al.
Publicado: (2023)

Cathepsin B p.Gly284Val Variant in Parkinson’s Disease Pathogenesis
por: Milanowski, Lukasz M., et al.
Publicado: (2022)

Molecular phenotypes of mitochondrial dysfunction in clinically non-manifesting heterozygous PRKN variant carriers
por: Castelo Rueda, Maria Paulina, et al.
Publicado: (2023)

Long-read sequencing resolves a complex structural variant in PRKN Parkinson’s disease
por: Daida, Kensuke, et al.
Publicado: (2023)

GAK and PRKCD are positive regulators of PRKN-independent mitophagy
por: Munson, Michael J., et al.
Publicado: (2021)

Heterozygous PINK1 p.G411S increases risk of Parkinson’s disease via a dominant-negative mechanism
por: Puschmann, Andreas, et al.
Publicado: (2017)

Prkn knockout mice show autistic-like behaviors and aberrant synapse formation
por: Huo, Yuda, et al.
Publicado: (2022)

Novel Compound Heterozygous PRKN Variants in a Han-Chinese Family with Early-Onset Parkinson's Disease
por: Fan, Kuan, et al.
Publicado: (2019)

Mutations in PRKN and SNCA Genes Important for the Progress of Parkinson’s Disease
por: Oczkowska, Anna, et al.
Publicado: (2013)

Assessing the relationship between monoallelic PRKN mutations and Parkinson’s risk
por: Lubbe, Steven J, et al.
Publicado: (2021)

Alpha-synuclein-induced mitochondrial dysfunction is mediated via a sirtuin 3-dependent pathway
por: Park, Jae-Hyeon, et al.
Publicado: (2020)

Frequency of Heterozygous Parkin (PRKN) Variants and Penetrance of Parkinson's Disease Risk Markers in the Population-Based CHRIS Cohort
por: Castelo Rueda, Maria Paulina, et al.
Publicado: (2021)

Reduced astrocytic reactivity in human brains and midbrain organoids with PRKN mutations
por: Kano, Masayoshi, et al.
Publicado: (2020)

Diffusion MRI Captures White Matter Microstructure Alterations in PRKN Disease
por: Koinuma, Takahiro, et al.
Publicado: (2021)

A homozygous PRKN-associated juvenile Parkinson's disease with pregnancy in China
por: Li, Hong-xing, et al.
Publicado: (2023)

Investigation of PRKN Mutations in Levodopa-Induced Dyskinesia in Parkinson’s Disease Treatment
por: Bispo, Ana Gabrielle, et al.
Publicado: (2023)

Molecular characterization of PRKN structural variations identified through whole‐genome sequencing
por: Bravo, Paloma, et al.
Publicado: (2018)

CDK9 inhibition blocks the initiation of PINK1-PRKN-mediated mitophagy by regulating the SIRT1-FOXO3-BNIP3 axis and enhances the therapeutic effects involving mitochondrial dysfunction in hepatocellular carcinoma
por: Yao, Jingyue, et al.
Publicado: (2021)

Associations of PRKN–PACRG SNPs and G × G and G × E interactions with the risk of hyperlipidaemia
por: Zheng, Peng-Fei, et al.
Publicado: (2020)

Levodopa-responsive dystonia caused by biallelic PRKN exon inversion invisible to exome sequencing
por: Mor-Shaked, Hagar, et al.
Publicado: (2021)

Sensitive ELISA-based detection method for the mitophagy marker p-S65-Ub in human cells, autopsy brain, and blood samples
por: Watzlawik, Jens O., et al.
Publicado: (2020)

Analysis of Nigerians with Apparently Sporadic Parkinson Disease for Mutations in LRRK2, PRKN and ATXN3
por: Okubadejo, Njideka, et al.
Publicado: (2008)

miR-218 Inhibits Mitochondrial Clearance by Targeting PRKN E3 Ubiquitin Ligase
por: Di Rita, Anthea, et al.
Publicado: (2020)

Fasting Dependent Paroxysmal Exercise Induced Dystonia as Presenting Symptom in PRKN Type of Parkinson's Disease
por: Gattermeyer, Lukas, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_qo8ttv7eb46ah4anre9bre0gvv