Cargando…

In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration

We investigated the clinical, genetic, and pathological characteristics of a previously unknown severe juvenile brain disorder in several litters of Parson Russel Terriers. The disease started with epileptic seizures at 6–12 weeks of age and progressed rapidly to status epilepticus and death or euth...

Descripción completa

Detalles Bibliográficos
Autores principales:	Hytönen, Marjo K., Sarviaho, Riika, Jackson, Christopher B., Syrjä, Pernilla, Jokinen, Tarja, Matiasek, Kaspar, Rosati, Marco, Dallabona, Cristina, Baruffini, Enrico, Quintero, Ileana, Arumilli, Meharji, Monteuuis, Geoffray, Donner, Jonas, Anttila, Marjukka, Suomalainen, Anu, Bindoff, Laurence A., Lohi, Hannes
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Berlin Heidelberg 2021
Materias:	Original Investigation
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8519929/ https://www.ncbi.nlm.nih.gov/pubmed/33835239 http://dx.doi.org/10.1007/s00439-021-02279-y

Ejemplares similares

ANLN truncation causes a familial fatal acute respiratory distress syndrome in Dalmatian dogs
por: Holopainen, Saila, et al.
Publicado: (2017)

Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shepherd dogs
por: Niskanen, Julia, et al.
Publicado: (2017)

Recessive missense LAMP3 variant associated with defect in lamellar body biogenesis and fatal neonatal interstitial lung disease in dogs
por: Dillard, Kati J., et al.
Publicado: (2020)

A homozygous missense variant in the alkaline phosphatase gene ALPL is associated with a severe form of canine hypophosphatasia
por: Kyöstilä, Kaisa, et al.
Publicado: (2019)

Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration
por: Brunetti, Dario, et al.
Publicado: (2015)

Intronic variant in POU1F1 associated with canine pituitary dwarfism
por: Kyöstilä, Kaisa, et al.
Publicado: (2021)

webGQT: A Shiny Server for Genotype Query Tools for Model-Based Variant Filtering
por: Arumilli, Meharji, et al.
Publicado: (2020)

Missense variant in LOXHD1 is associated with canine nonsyndromic hearing loss
por: Hytönen, Marjo K., et al.
Publicado: (2021)

Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants
por: Hytönen, Marjo K., et al.
Publicado: (2019)

Role of PITRM1 in Mitochondrial Dysfunction and Neurodegeneration
por: Brunetti, Dario, et al.
Publicado: (2021)

A Novel GUSB Mutation in Brazilian Terriers with Severe Skeletal Abnormalities Defines the Disease as Mucopolysaccharidosis VII
por: Hytönen, Marjo K., et al.
Publicado: (2012)

Assembly and Analysis of Unmapped Genome Sequence Reads Reveal Novel Sequence and Variation in Dogs
por: Holden, Lindsay A., et al.
Publicado: (2018)

Author Correction: Assembly and Analysis of Unmapped Genome Sequence Reads Reveal Novel Sequence and Variation in Dogs
por: Holden, Lindsay A., et al.
Publicado: (2018)

Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes
por: Hytönen, Marjo K., et al.
Publicado: (2016)

A CNGB1 Frameshift Mutation in Papillon and Phalène Dogs with Progressive Retinal Atrophy
por: Ahonen, Saija J., et al.
Publicado: (2013)

A putative silencer variant in a spontaneous canine model of retinitis pigmentosa
por: Kaukonen, Maria, et al.
Publicado: (2020)

A loss-of-function variant in canine GLRA1 associates with a neurological disorder resembling human hyperekplexia
por: Heinonen, Tiina, et al.
Publicado: (2023)

Identification of a common risk haplotype for canine idiopathic epilepsy in the ADAM23 gene
por: Koskinen, Lotta L. E., et al.
Publicado: (2015)

Novel protective and risk loci in hip dysplasia in German Shepherds
por: Mikkola, Lea I., et al.
Publicado: (2019)

PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from PITRM1-deficient patients
por: Di Donfrancesco, Alessia, et al.
Publicado: (2023)

Altered Basal Autophagy Affects Extracellular Vesicle Release in Cells of Lagotto Romagnolo Dogs With a Variant ATG4D
por: Syrjä, Pernilla, et al.
Publicado: (2020)

Whole Genome Sequencing Indicates Heterogeneity of Hyperostotic Disorders in Dogs
por: Letko, Anna, et al.
Publicado: (2020)

Assessing adverse effects of intra-articular botulinum toxin A in healthy Beagle dogs: A placebo-controlled, blinded, randomized trial
por: Heikkilä, Helka M., et al.
Publicado: (2018)

A missense variant in IFT122 associated with a canine model of retinitis pigmentosa
por: Kaukonen, Maria, et al.
Publicado: (2021)

Two novel genomic regions associated with fearfulness in dogs overlap human neuropsychiatric loci
por: Sarviaho, R., et al.
Publicado: (2019)

A hypomyelinating leukodystrophy in German Shepherd dogs
por: Quitt, Pia R., et al.
Publicado: (2021)

Canine models of human rare disorders
por: Hytönen, Marjo K., et al.
Publicado: (2016)

A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions
por: Hytönen, Marjo K., et al.
Publicado: (2019)

A novel genomic region on chromosome 11 associated with fearfulness in dogs
por: Sarviaho, R., et al.
Publicado: (2020)

Increased Expression of MERTK is Associated with a Unique Form of Canine Retinopathy
por: Ahonen, Saija J., et al.
Publicado: (2014)

Dog colour patterns explained by modular promoters of ancient canid origin
por: Bannasch, Danika L., et al.
Publicado: (2021)

An across-breed validation study of 46 genetic markers in canine hip dysplasia
por: Mikkola, Lea, et al.
Publicado: (2021)

Pathological alleles of MPV17 modeled in the yeast Saccharomyces cerevisiae orthologous gene SYM1 reveal their inability to take part in a high molecular weight complex
por: Gilberti, Micol, et al.
Publicado: (2018)

A splice site variant in INPP5E causes diffuse cystic renal dysplasia and hepatic fibrosis in dogs
por: Dillard, Kati J., et al.
Publicado: (2018)

Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders
por: Donner, Jonas, et al.
Publicado: (2016)

Loss of function of the mitochondrial peptidase PITRM1 induces proteotoxic stress and Alzheimer’s disease-like pathology in human cerebral organoids
por: Pérez, María José, et al.
Publicado: (2020)

Evaluation of intervertebral disc degeneration in young adult asymptomatic Dachshunds with magnetic resonance imaging and radiography
por: Reunanen, Vilma Liisa Jerosa, et al.
Publicado: (2023)

Polymorphisms in DNA polymerase γ affect the mtDNA stability and the NRTI-induced mitochondrial toxicity in Saccharomyces cerevisiae
por: Baruffini, Enrico, et al.
Publicado: (2015)

Gain of PITRM1 peptidase in cortical neurons affords protection of mitochondrial and synaptic function in an advanced age mouse model of Alzheimer’s disease
por: Du, Fang, et al.
Publicado: (2021)

A SEL1L Mutation Links a Canine Progressive Early-Onset Cerebellar Ataxia to the Endoplasmic Reticulum–Associated Protein Degradation (ERAD) Machinery
por: Kyöstilä, Kaisa, et al.
Publicado: (2012)

Cannot write session to /tmp/vufind_sessions/sess_8iopgt72j3mfrln6808jeljo1t