Cargando…

Levodopa-responsive dystonia caused by biallelic PRKN exon inversion invisible to exome sequencing

Biallelic pathogenic variants in PRKN (PARK2), encoding the E3 ubiquitin ligase parkin, lead to early-onset Parkinson's disease. Structural variants, including duplications or deletions, are common in PRKN due to their location within the fragile site FRA6E. These variants are readily detectabl...

Descripción completa

Detalles Bibliográficos
Autores principales:	Mor-Shaked, Hagar, Paz-Ebstein, Emuna, Basal, Adily, Ben-Haim, Simona, Grobe, Hanna, Heymann, Sami, Israel, Zvi, Namnah, Montaser, Nitzan, Anat, Rosenbluh, Chaggai, Saada, Ann, Tzur, Tomer, Yanovsky-Dagan, Shira, Zaidel-Bar, Ronen, Harel, Tamar, Arkadir, David
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2021
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8421701/ https://www.ncbi.nlm.nih.gov/pubmed/34514401 http://dx.doi.org/10.1093/braincomms/fcab197

Ejemplares similares

A recurrent de novo variant in NUSAP1 escapes nonsense‐mediated decay and leads to microcephaly, epilepsy, and developmental delay
por: Mo, Alisa, 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)

Safety and Tolerability, Dose-Escalating, Double-Blind Trial of Oral Mannitol in Parkinson's Disease
por: Linetsky, Eduard, et al.
Publicado: (2022)

A Novel Pax5-Binding Regulatory Element in the Igκ Locus
por: Levin-Klein, Rena, et al.
Publicado: (2014)

Biallelic mutations in mitochondrial tryptophanyl‐tRNA synthetase cause Levodopa‐responsive infantile‐onset Parkinsonism
por: Burke, E.A., et al.
Publicado: (2018)

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

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)

Systematic Functional Analysis of PINK1 and PRKN Coding Variants
por: Broadway, Benjamin J., et al.
Publicado: (2022)

Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder
por: Maroofian, Reza, et al.
Publicado: (2023)

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

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)

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

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

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

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

The pharmacokinetics of continuous subcutaneous levodopa/carbidopa infusion: Findings from the ND0612 clinical development program
por: LeWitt, Peter A., et al.
Publicado: (2022)

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)

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)

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)

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

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

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

FMR1 Epigenetic Silencing Commonly Occurs in Undifferentiated Fragile X-Affected Embryonic Stem Cells
por: Avitzour, Michal, et al.
Publicado: (2014)

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

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)

Liver-specific Prkn knockout mice are more susceptible to diet-induced hepatic steatosis and insulin resistance
por: Edmunds, Lia R., et al.
Publicado: (2020)

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

Establishment of an in vitro model for analyzing mitochondrial ultrastructure in PRKN-mutated patient iPSC-derived dopaminergic neurons
por: Yokota, Mutsumi, et al.
Publicado: (2021)

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)

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

Gender Differences in Levodopa Pharmacokinetics in Levodopa-Naïve Patients With Parkinson’s Disease
por: Conti, Valeria, et al.
Publicado: (2022)

Metagenomic sequencing for investigation of a national keratoconjunctivitis outbreak, Israel, 2022
por: Motro, Yair, et al.
Publicado: (2023)

Molecular analysis of cyclin D1 modulators PRKN and FBX4 as candidate tumor suppressors in sporadic parathyroid adenomas
por: Brewer, Kelly, et al.
Publicado: (2021)

Large Intronic Deletion of the Fragile Site Gene PRKN Dramatically Lowers Its Fragility Without Impacting Gene Expression
por: Munk, Sebastian H. N., et al.
Publicado: (2021)

Levodopa-Induced Pseudopheochromocytoma
por: Cardoso, Joana, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_eqo8v5dq4kg7c8hc5b0lf0ml1l