Cargando…

Molecular basis of diseases induced by the mitochondrial DNA mutation m.9032T>C

The mitochondrial DNA mutation m.9032T>C was previously identified in patients presenting with NARP (Neuropathy Ataxia Retinitis Pigmentosa). Their clinical features had a maternal transmission and patient’s cells showed a reduced oxidative phosphorylation capacity, elevated reactive oxygen speci...

Descripción completa

Detalles Bibliográficos
Autores principales:	Baranowska, Emilia, Niedzwiecka, Katarzyna, Panja, Chiranjit, Charles, Camille, Dautant, Alain, di Rago, Jean-Paul, Tribouillard-Tanvier, Déborah, Kucharczyk, Roza
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2022
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10077503/ https://www.ncbi.nlm.nih.gov/pubmed/36434790 http://dx.doi.org/10.1093/hmg/ddac292

Ejemplares similares

Probing the pathogenicity of patient-derived variants of MT-ATP6 in yeast
por: Baranowska, Emilia, et al.
Publicado: (2023)

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

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

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)

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)

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)

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)

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

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)

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)

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)

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

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

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

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

Respectful encounters from healthcare professionals and return to work among 9032 long-term sick-listed due to cancer or due to other diagnoses: results from a Swedish population-based survey
por: Månsson, Tomas, et al.
Publicado: (2019)

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

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

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

Mitochondrial DNA Mutations Provoke Dominant Inhibition of Mitochondrial Inner Membrane Fusion
por: Sauvanet, Cécile, et al.
Publicado: (2012)

Structural basis for adPEO-causing mutations in the mitochondrial TWINKLE helicase
por: Peter, Bradley, et al.
Publicado: (2019)

Label-Free Proteomic Analysis of Flavohemoglobin Deleted Strain of Saccharomyces cerevisiae
por: Panja, Chiranjit, et al.
Publicado: (2016)

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

Corrigendum to: Structural basis for adPEO-causing mutations in the mitochondrial TWINKLE helicase
por: Peter, Bradley, 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)

The HK2 Dependent “Warburg Effect” and Mitochondrial Oxidative Phosphorylation in Cancer: Targets for Effective Therapy with 3-Bromopyruvate
por: Lis, Paweł, et al.
Publicado: (2016)

Mitochondrial membrane potential acts as a retrograde signal to regulate cell cycle progression
por: Gorospe, Choco Michael, et al.
Publicado: (2023)

Molecular basis for mitochondrial signaling
por: Rostovtseva, Tatiana
Publicado: (2017)

Structural basis of mitochondrial translation
por: Aibara, Shintaro, et al.
Publicado: (2020)

Revisiting Mitochondrial pH with an Improved Algorithm for Calibration of the Ratiometric 5(6)-carboxy-SNARF-1 Probe Reveals Anticooperative Reaction with H(+) Ions and Warrants Further Studies of Organellar pH
por: Żurawik, Tomasz Michał, et al.
Publicado: (2016)

3-Bromopyruvate as an Alternative Option for the Treatment of Protothecosis
por: Jagielski, Tomasz, et al.
Publicado: (2018)

Les détecteurs de profil du GANIL
por: Tribouillard, C
Publicado: (1997)

The Renal Effects of Vanadate Exposure: Potential Biomarkers and Oxidative Stress as a Mechanism of Functional Renal Disorders—Preliminary Studies
por: Ścibior, Agnieszka, et al.
Publicado: (2014)

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

Structural basis for nematode eIF4E binding an m(2,2,7)G-Cap and its implications for translation initiation
por: Liu, Weizhi, et al.
Publicado: (2011)

Structural basis for the structural dynamics of human mitochondrial chaperonin mHsp60
por: Wang, Joseph Che-Yen, et al.
Publicado: (2021)

The Mitochondrial Basis of Aging and Age-Related Disorders
por: Srivastava, Sarika
Publicado: (2017)

Molecular Basis of Mitochondrial and Peroxisomal Division Machineries
por: Imoto, Yuuta, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_bckdhpoo9ns6oqie95to7uf33m