Cargando…

Probing the pathogenicity of patient-derived variants of MT-ATP6 in yeast

The list of mitochondrial DNA (mtDNA) variants detected in individuals with neurodegenerative diseases is constantly growing. Evaluating their functional consequences and pathogenicity is not easy, especially when they are found in only a limited number of patients together with wild-type mtDNA (het...

Descripción completa

Detalles Bibliográficos
Autores principales:	Baranowska, Emilia, Niedzwiecka, Katarzyna, Panja, Chiranjit, Charles, Camille, Dautant, Alain, Poznanski, Jarosław, di Rago, Jean-Paul, Tribouillard-Tanvier, Déborah, Kucharczyk, Roza
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Company of Biologists Ltd 2023
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10151828/ https://www.ncbi.nlm.nih.gov/pubmed/37083953 http://dx.doi.org/10.1242/dmm.049783

Ejemplares similares

Analysis of MT-ATP8 gene variants reported in patients by modeling in silico and in yeast model organism
por: Panja, Chiranjit, et al.
Publicado: (2023)

Molecular basis of diseases induced by the mitochondrial DNA mutation m.9032T>C
por: Baranowska, Emilia, et al.
Publicado: (2022)

ATP synthase interactome analysis identifies a new subunit l as a modulator of permeability transition pore in yeast
por: Panja, Chiranjit, et al.
Publicado: (2023)

ATP Synthase Diseases of Mitochondrial Genetic Origin
por: Dautant, Alain, et al.
Publicado: (2018)

Assembly-dependent translation of subunits 6 (Atp6) and 9 (Atp9) of ATP synthase in yeast mitochondria
por: Kabala, Anna M, et al.
Publicado: (2022)

Molecular Basis of the Pathogenic Mechanism Induced by the m.9191T>C Mutation in Mitochondrial ATP6 Gene
por: Su, Xin, et al.
Publicado: (2020)

Case Report: Identification of a Novel Variant (m.8909T>C) of Human Mitochondrial ATP6 Gene and Its Functional Consequences on Yeast ATP Synthase
por: Ding, Qiuju, et al.
Publicado: (2020)

Identification of G8969>A in mitochondrial ATP6 gene that severely compromises ATP synthase function in a patient with IgA nephropathy
por: Wen, Shuzhen, et al.
Publicado: (2016)

Yeast as a system for modeling mitochondrial disease mechanisms and discovering therapies
por: Lasserre, Jean-Paul, et al.
Publicado: (2015)

Assigning mitochondrial localization of dual localized proteins using a yeast Bi-Genomic Mitochondrial-Split-GFP
por: Bader, Gaétan, et al.
Publicado: (2020)

Targeting Copper Homeostasis Improves Functioning of vps13Δ Yeast Mutant Cells, a Model of VPS13-Related Diseases
por: Soczewka, Piotr, et al.
Publicado: (2021)

Decreasing cytosolic translation is beneficial to yeast and human Tafazzin-deficient cells
por: de Taffin de Tilques, Maxence, et al.
Publicado: (2018)

A yeast-based screening assay identifies repurposed drugs that suppress mitochondrial fusion and mtDNA maintenance defects
por: Delerue, Thomas, et al.
Publicado: (2019)

Overexpression of mitochondrial oxodicarboxylate carrier (ODC1) preserves oxidative phosphorylation in a yeast model of Barth syndrome
por: de Taffin de Tilques, Maxence, et al.
Publicado: (2017)

Combined in silico and (19)F NMR analysis of 5-fluorouracil metabolism in yeast at low ATP conditions
por: Pawłowski, Piotr H., et al.
Publicado: (2019)

Antihypertensive Drug Guanabenz Is Active In Vivo against both Yeast and Mammalian Prions
por: Tribouillard-Tanvier, Déborah, et al.
Publicado: (2008)

Flavonoids as Potential Drugs for VPS13-Dependent Rare Neurodegenerative Diseases
por: Soczewka, Piotr, et al.
Publicado: (2020)

5,6-diiodo-1H-benzotriazole: new TBBt analogue that minutely affects mitochondrial activity
por: Paprocki, Daniel, et al.
Publicado: (2021)

Hypophosphatemia and sudden infant death syndrome (SIDS)—is ATP the link?
por: Szczesny, Pawel, et al.
Publicado: (2014)

Perturbation of the yeast mitochondrial lipidome and associated membrane proteins following heterologous expression of Artemia-ANT
por: Chen, Emily, et al.
Publicado: (2018)

Biochemical consequences of two clinically relevant ND-gene mutations in Escherichia coli respiratory complex I
por: Nuber, Franziska, et al.
Publicado: (2021)

Functional mapping of N-terminal residues in the yeast proteome uncovers novel determinants for mitochondrial protein import
por: Nashed, Salomé, et al.
Publicado: (2023)

The Suppressor of AAC2 Lethality SAL1 Modulates Sensitivity of Heterologously Expressed Artemia ADP/ATP Carrier to Bongkrekate in Yeast
por: Wysocka-Kapcinska, Monika, et al.
Publicado: (2013)

A lack of a definite correlation between male sub-fertility and single nucleotide polymorphisms in sperm mitochondrial genes MT-CO3, MT-ATP6 and MT-ATP8
por: Saleh Jaweesh, Mayyas, et al.
Publicado: (2022)

Biochemical investigation of a human pathogenic mutation in the nuclear ATP5E gene using yeast as a model
por: Sardin, Elodie, et al.
Publicado: (2015)

A novel variant m.8561C>T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signs
por: Fragaki, Konstantina, et al.
Publicado: (2019)

Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations
por: Bugiardini, Enrico, et al.
Publicado: (2020)

RuvC uses dynamic probing of the Holliday junction to achieve sequence specificity and efficient resolution
por: Górecka, Karolina Maria, et al.
Publicado: (2019)

Mitochondrial protein sorting as a therapeutic target for ATP synthase disorders
por: Aiyar, Raeka S., et al.
Publicado: (2014)

Stable nuclear expression of ATP8 and ATP6 genes rescues a mtDNA Complex V null mutant
por: Boominathan, Amutha, et al.
Publicado: (2016)

Epilepsy in MT‐ATP6 ‐ related mils/NARP: correlation of elettroclinical features with heteroplasmy
por: Licchetta, Laura, et al.
Publicado: (2021)

Mutations in MT-ATP6 are a frequent cause of adult-onset spinocerebellar ataxia
por: Nolte, Dagmar, et al.
Publicado: (2021)

Clinical Heterogeneity in MT-ATP6 Pathogenic Variants: Same Genotype—Different Onset
por: Capiau, Sara, et al.
Publicado: (2022)

An uracil-linked hydroxyflavone probe for the recognition of ATP
por: Bojtár, Márton, et al.
Publicado: (2018)

Structure, Folding and Stability of Nucleoside Diphosphate Kinases
por: Georgescauld, Florian, et al.
Publicado: (2020)

Experimental Relocation of the Mitochondrial ATP9 Gene to the Nucleus Reveals Forces Underlying Mitochondrial Genome Evolution
por: Bietenhader, Maïlis, et al.
Publicado: (2012)

Reciprocal interactions between mtDNA and lifespan control in budding yeast
por: Garcia, Enrique J., et al.
Publicado: (2019)

Changes to the mtDNA copy number during yeast culture growth
por: Galeota-Sprung, Ben, et al.
Publicado: (2022)

Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration
por: Stendel, Claudia, et al.
Publicado: (2020)

Bedaquiline inhibits the yeast and human mitochondrial ATP synthases
por: Luo, Min, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_gi7mvdnsvpmdboeif3b9irucmt