Cargando…

Genetic Variant in GRM1 Underlies Congenital Cerebellar Ataxia with No Obvious Intellectual Disability

Metabotropic glutamate receptor 1 (mGluR1) plays a crucial role in slow excitatory postsynaptic conductance, synapse formation, synaptic plasticity, and motor control. The GRM1 gene is expressed mainly in the brain, with the highest expression in the cerebellum. Mutations in the GRM1 gene have previ...

Descripción completa

Detalles Bibliográficos
Autores principales:	Protasova, Maria S., Andreeva, Tatiana V., Klyushnikov, Sergey A., Illarioshkin, Sergey N., Rogaev, Evgeny I.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9865416/ https://www.ncbi.nlm.nih.gov/pubmed/36675067 http://dx.doi.org/10.3390/ijms24021551

Ejemplares similares

Genetic Association Between Alzheimer’s Disease Risk Variant of the PICALM Gene and EEG Functional Connectivity in Non-demented Adults
por: Ponomareva, Natalya, et al.
Publicado: (2020)

Neurodevelopmental Syndrome with Intellectual Disability, Speech Impairment, and Quadrupedia Is Associated with Glutamate Receptor Delta 2 Gene Defect
por: Grigorenko, Anastasia P., et al.
Publicado: (2022)

Factors Regulating the Activity of LINE1 Retrotransposons
por: Protasova, Maria Sergeevna, et al.
Publicado: (2021)

Age-dependent effect of Alzheimer’s risk variant of CLU on EEG alpha rhythm in non-demented adults
por: Ponomareva, Natalya, et al.
Publicado: (2013)

Neuronal Hyperactivation in EEG Data during Cognitive Tasks Is Related to the Apolipoprotein J/Clusterin Genotype in Nondemented Adults
por: Ponomareva, Natalya V., et al.
Publicado: (2023)

A methodological approach for botulinum neurotoxin injections to the longus colli muscle in dystonic anterocollis: A case series of 4 patients and a literature review
por: Seliverstov, Yury, et al.
Publicado: (2020)

Cerebellar ataxia, neuropathy, hearing loss, and intellectual disability due to AIFM1 mutation
por: Pandolfo, Massimo, et al.
Publicado: (2020)

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44
por: Watson, Lauren M., et al.
Publicado: (2017)

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44
por: Watson, Lauren M., et al.
Publicado: (2017)

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44
por: Watson, Lauren M., et al.
Publicado: (2017)

Genetic association of apolipoprotein E genotype with EEG alpha rhythm slowing and functional brain network alterations during normal aging
por: Ponomareva, Natalya V., et al.
Publicado: (2022)

Disability in cerebellar ataxia syndromes is linked to cortical degeneration
por: Conrad, Julian, et al.
Publicado: (2023)

The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families
por: Davarniya, Behzad, et al.
Publicado: (2015)

A Novel Nonsense Variant in GRM1 Causes Autosomal Recessive Spinocerebellar Ataxia 13 in a Consanguineous Pakistani Family
por: Yousaf, Hammad, et al.
Publicado: (2022)

The role of group II metabotropic glutamate receptors in cognition and anxiety: Comparative studies in GRM2(−/−), GRM3(−/−) and GRM2/3(−/−) knockout mice
por: De Filippis, Bianca, et al.
Publicado: (2015)

OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation
por: Saida, Ken, et al.
Publicado: (2021)

ITPR1 gene p.Val1553Met mutation in Russian family with mild Spinocerebellar ataxia
por: Shadrina, M. I., et al.
Publicado: (2016)

SYNE1-related autosomal recessive cerebellar ataxia, congenital cerebellar hypoplasia, and cognitive impairment
por: Swan, Lauren, et al.
Publicado: (2018)

Altered hippocampal expression of glutamate receptors and transporters in GRM2 and GRM3 knockout mice
por: Lyon, Louisa, et al.
Publicado: (2008)

A 7q31.33q32.1 microdeletion including LRRC4 and GRM8 is associated with severe intellectual disability and characteristics of autism
por: Sangu, Noriko, et al.
Publicado: (2017)

Variants of GRM7 as risk factor and response to antipsychotic therapy in schizophrenia
por: Liang, Wei, et al.
Publicado: (2020)

Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy
por: Marafi, Dana, et al.
Publicado: (2020)

Post-Plasmodium vivax malaria cerebellar ataxia and optic neuritis: A new form of delayed cerebellar ataxia or cerebellar variant of acute disseminated encephalomyelitis?
por: Kasundra, Gaurav M., et al.
Publicado: (2015)

Treatable cerebellar ataxias()
por: K.P., Divya, et al.
Publicado: (2020)

The underpinnings of cerebellar ataxias
por: Manto, Mario
Publicado: (2022)

Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness
por: Naeem, Muhammad Asif, et al.
Publicado: (2015)

Genome Analysis of Sable Fur Color Links a Lightened Pigmentation Phenotype to a Frameshift Variant in the Tyrosinase-Related Protein 1 Gene
por: Manakhov, Andrey D., et al.
Publicado: (2021)

Novel homozygous variant in the TPO gene associated with congenital hypothyroidism and mild-intellectual disability
por: Khan, Amjad, et al.
Publicado: (2020)

Clinical Recognition of Sensory Ataxia and Cerebellar Ataxia
por: Zhang, Qing, et al.
Publicado: (2021)

Deleterious GRM1 Mutations in Schizophrenia
por: Ayoub, Mohammed Akli, et al.
Publicado: (2012)

Genomics of Ancient Pathogens: First Advances and Prospects
por: Malyarchuk, Alexandra B., et al.
Publicado: (2022)

Correlation between variants of the CREB1 and GRM7 genes and risk of depression
por: Wang, Li, et al.
Publicado: (2023)

Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients
por: Choucair, Nancy, et al.
Publicado: (2015)

Cerebellar volumetry in ataxias: Relation to ataxia severity and duration
por: Ferreira, Mónica, et al.
Publicado: (2023)

Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia
por: Ghorbani, Fatemeh, et al.
Publicado: (2023)

Autosomal recessive cerebellar ataxias
por: Palau, Francesc, et al.
Publicado: (2006)

An update on Spino-cerebellar ataxias
por: Mondal, Banashree, et al.
Publicado: (2013)

Metronidazole induced cerebellar ataxia
por: Hari, Aditya, et al.
Publicado: (2013)

An Unusual Etiology of Cerebellar Ataxia
por: Kaiser, Ryan Sohail, et al.
Publicado: (2020)

Milestones in genetics of cerebellar ataxias
por: Krygier, Magdalena, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_vrips1nvpnocvufvsi28pg6ms2