Search Results

Deletion of the SELENOP gene leads to CNS atrophy with cerebellar ataxia in dogs.

• Authors : Christen M; Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland.; Högler S

Subjects: Cerebellar Ataxia/Cerebellar Ataxia/Cerebellar Ataxia/*genetics ; Selenoprotein P/Selenoprotein P/Selenoprotein P/*genetics ; Selenoprotein P/Selenoprotein P/Selenoprotein P/*metabolism

• Source: PLoS genetics [PLoS Genet] 2021 Aug 02; Vol. 17 (8), pp. e1009716. Date of Electronic Publication: 2021 Aug 02 (Print Publication: 2021).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet

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Characterisation of canine KCNIP4: A novel gene for cerebellar ataxia identified by whole-genome sequencing two affected Norwegian Buhund dogs.

• Authors : Jenkins CA; Kennel Club Genetics Centre, Animal Health Trust, Newmarket, Suffolk, United Kingdom.; Kalmar L

Subjects: Polymorphism, Single Nucleotide*; Cerebellar Ataxia/Cerebellar Ataxia/Cerebellar Ataxia/*genetics ; Dog Diseases/Dog Diseases/Dog Diseases/*genetics

• Source: PLoS genetics [PLoS Genet] 2020 Jan 30; Vol. 16 (1), pp. e1008527. Date of Electronic Publication: 2020 Jan 30 (Print Publication: 2020).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet

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Alkaline Ceramidase 3 Deficiency Results in Purkinje Cell Degeneration and Cerebellar Ataxia Due to Dyshomeostasis of Sphingolipids in the Brain.

• Authors : Wang K; Department of Medicine, Stony Brook University, Stony Brook, New York, United States of America; Stony Brook Cancer Center, Stony Brook, New York, United States of America

Subjects: Aging/Aging/Aging/*genetics ; Alkaline Ceramidase/Alkaline Ceramidase/Alkaline Ceramidase/*genetics ; Brain/Brain/Brain/*metabolism

• Source: PLoS genetics [PLoS Genet] 2015 Oct 16; Vol. 11 (10), pp. e1005591. Date of Electronic Publication: 2015 Oct 16 (Print Publication: 2015).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet

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A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machinery.

• Authors : Kyöstilä K; Department of Medical Genetics, University of Helsinki, Helsinki, Finland.; Cizinauskas S

Subjects: Cerebellar Ataxia*/Cerebellar Ataxia*/Cerebellar Ataxia*/genetics ; Cerebellar Ataxia*/Cerebellar Ataxia*/Cerebellar Ataxia*/pathology ; Cerebellar Ataxia*/Cerebellar Ataxia*/Cerebellar Ataxia*/veterinary

• Source: PLoS genetics [PLoS Genet] 2012; Vol. 8 (6), pp. e1002759. Date of Electronic Publication: 2012 Jun 14.Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: Print-Electronic Cited Medium: Internet

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Drosophila CaV2 channels harboring human migraine mutations cause synapse hyperexcitability that can be suppressed by inhibition of a Ca2+ store release pathway.

• Authors : Brusich DJ; Department of Anatomy and Cell Biology, University of Iowa Carver College of Medicine, Iowa City, IA, United States of America.; Spring AM

Subjects: Calcium/Calcium/Calcium/*metabolism ; Calcium Channels, N-Type/Calcium Channels, N-Type/Calcium Channels, N-Type/*genetics ; Cerebellar Ataxia/Cerebellar Ataxia/Cerebellar Ataxia/*genetics Hemiplegic migraine, familial type 1

• Source: PLoS genetics [PLoS Genet] 2018 Aug 06; Vol. 14 (8), pp. e1007577. Date of Electronic Publication: 2018 Aug 06 (Print Publication: 2018).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet

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Correction: Alkaline Ceramidase 3 Deficiency Results in Purkinje Cell Degeneration and Cerebellar Ataxia Due to Dyshomeostasis of Sphingolipids in the Brain.

• Authors : Wang, Kai; Xu, Ruijuan; Schrandt, Jennifer

Subjects: *CEREBELLAR ataxia; *SPHINGOLIPIDS; *ALKALINE ceramidase

• Source: PLoS Genetics. 1/23/2018, Vol. 14 Issue 1, p1-3. 3p.

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Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

• Authors : Luo X; Rosenfeld JA ...

Subjects: Alleles* ; Genome, Human*; Calcium Channels/Calcium Channels/Calcium Channels/*genetics

• Source: PLoS genetics [PLoS Genet] 2017 Jul 24; Vol. 13 (7), pp. e1006905. Date of Electronic Publication: 2017 Jul 24 (Print Publication: 2017).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet

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Profound analgesia is associated with a truncated peptide resulting from tissue specific alternative splicing of DRG CA8-204 regulated by an exon-level cis-eQTL.

• Authors : Upadhyay, Udita; Zhuang, Gerald Z.; Diatchenko, Luda

Subjects: RNA splicing; DORSAL root ganglia; NEUROGLIA

• Source: PLoS Genetics; 6/14/2019, Vol. 15 Issue 6, p1-21, 21p

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A Hereditary Spastic Paraplegia Mouse Model Supports a Role of ZFYVE26/SPASTIZIN for the Endolysosomal System.

• Authors : Khundadze, Mukhran; Kollmann, Katrin; Koch, Nicole

Subjects: PARAPLEGIA; SPASTICITY; NEURONS

• Source: PLoS Genetics; Dec2013, Vol. 9 Issue 12, p1-16, 16p

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Ataxin-2 regulates RGS8 translation in a new BAC-SCA2 transgenic mouse model

• Authors : Dansithong, Warunee; Paul, Sharan; Figueroa, Karla P.

• Source: PLoS Genetics. April, 2015, Vol. 11 Issue 4

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