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Modulating ryanodine receptors with dantrolene attenuates neuronopathic phenotype in Gaucher disease mice.

Neuronopathic Gaucher disease (nGD) manifests as severe neurological symptoms in patients with no effective treatment available. Ryanodine receptors (Ryrs) are a family of calcium release channels on intracellular stores. The goal of this study is to…

Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.

Aminoacyl-tRNA synthetases (ARSs) are critical for protein translation. Pathogenic variants of ARSs have been previously associated with peripheral neuropathy and multisystem disease in heterozygotes and homozygotes, respectively. We report seven…

Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease

Aminoacyl-tRNA synthetases (ARSs) are critical for protein translation. Pathogenic variants of ARSs have been previously associated with peripheral neuropathy and multisystem disease in heterozygotes and homozygotes, respectively. We report seven…

Tags: 2019, Adult, Antonellis Anthony, Baras Aris, Biochemistry & Molecular Biology, Brigatti Karlla W, Carson Vincent J, Catalytic Domain, Child, Demczko Matthew M, Female, Fox Michael D, Furuya Katryn N, gene, Genetic Diseases, Genetic Predisposition to Disease, Genetics & Heredity, Gonzaga-Jauregui Claudia, Griffin Laurie B, Hearing Loss, Heterozygote, Homozygote, Human molecular genetics, Humans, impairment, Inborn, Infant, Jinks Robert N, Kandula Vinay V R, lactic-acidosis, Loss of Function Mutation, Male, Martinez Erick D, mechanisms, Miles Lili, Mutation, myopathy, NEOMED College of Medicine Student, NEOMED Student Publications, Newborn, onset, Overton John D, Pedigree, Phenotype, phenotypic variability, Poskitt Laura, Preschool, Puffenberger Erik G, Radhakrishnan Kadakkal, recessive mutations, Reid Jeffrey G, Sensorineural, September 2019 Update, Severity of Illness Index, Strauss Kevin A, swiss-model, Tyrosine-tRNA Ligase, variant, Wenger Olivia K, Whole Exome Sequencing, Williams Katie B, Yeasts, Yoder Mark A

Crouzon Syndrome - Mutations In 2 Spliceoforms Of Fgfr2 And A Common Point Mutation Shared With Jackson-weiss Syndrome

Dominant mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have been recently identified as causes of four phenotypically distinct craniosynostosis syndromes, including Crouzon, Jackson-Weiss, Pfeiffer, and Apert syndromes, These data…

Tags: 1995, Biochemistry & Molecular Biology, Ehrlich G D, fibroblast, Genetics & Heredity, Gorry M C, Human molecular genetics, Journal Article or Conference Abstract Publication, Losken H W, Nwokoro N A, Parker M G, Post J C, Preston R A, Singhal V K, White G J, Zhang Y Z

Browse Items (4 total)

Modulating ryanodine receptors with dantrolene attenuates neuronopathic phenotype in Gaucher disease mice.

Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.

Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease

Crouzon Syndrome - Mutations In 2 Spliceoforms Of Fgfr2 And A Common Point Mutation Shared With Jackson-weiss Syndrome