Knockdown of myorg leads to brain calcification in zebrafish

Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification

(2020) Lucia V. Schottlaender et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Biallelic MYORG mutations: Primary familial brain calcification goes recessive

(2019) Daniel Alvarez‐Fischer et al.   MOVEMENT DISORDERS

PTC-bearing mRNA elicits a genetic compensation response via Upf3a and COMPASS components

(2019) Zhipeng Ma et al.   NATURE

Genetic compensation triggered by mutant mRNA degradation

(2019) Mohamed A. El-Brolosy et al.   NATURE

Underestimated disease prevalence and severe phenotypes in patients with biallelic variants: A cohort study of primary familial brain calcification from China

(2019) Si Chen et al.   PARKINSONISM & RELATED DISORDERS

Stop-gain mutations in UBAP1 cause pure autosomal-dominant spastic paraplegia

(2019) Xiang Lin et al.   BRAIN

MYORG Mutations: a Major Cause of Recessive Primary Familial Brain Calcification

(2019) Max Bauer et al.   Current Neurology and Neuroscience Reports

αKlotho Regulates Age-Associated Vascular Calcification and Lifespan in Zebrafish

(2019) Ajeet Pratap Singh et al.   Cell Reports

A single-cell transcriptome atlas for zebrafish development

(2019) Dylan R. Farnsworth et al.   DEVELOPMENTAL BIOLOGY

Biallelic loss-of-function mutations in JAM2 cause primary familial brain calcification

(2019) Zhidong Cen et al.   BRAIN

Mice Knocked Out for the Primary Brain Calcification–Associated Gene Slc20a2 Show Unimpaired Prenatal Survival but Retarded Growth and Nodules in the Brain that Grow and Calcify Over Time

(2018) Nina Jensen et al.   AMERICAN JOURNAL OF PATHOLOGY

Zebrafish models of autism spectrum disorder

(2018) Daria A. Meshalkina et al.   EXPERIMENTAL NEUROLOGY

The developing utility of zebrafish models of neurological and neuropsychiatric disorders: A critical review

(2018) Barbara D. Fontana et al.   EXPERIMENTAL NEUROLOGY

Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification

(2018) Xiang-Ping Yao et al.   NEURON

Guidelines for morpholino use in zebrafish

(2017) Didier Y. R. Stainier et al.   PLoS Genetics

SLC20A2 Deficiency in Mice Leads to Elevated Phosphate Levels in Cerbrospinal Fluid and Glymphatic Pathway-Associated Arteriolar Calcification, and Recapitulates Human Idiopathic Basal Ganglia Calcification

(2016) Mary Catherine Wallingford et al.   BRAIN PATHOLOGY

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

(2015) Andrea Legati et al.   NATURE GENETICS

Animal models in epilepsy research: legacies and new directions

(2015) Brian P Grone et al.   NATURE NEUROSCIENCE

Functional Characterization of Germline Mutations in PDGFB and PDGFRB in Primary Familial Brain Calcification

(2015) Michael Vanlandewijck et al.   PLoS One

PDGF, Pericytes and the Pathogenesis of Idiopathic Basal Ganglia Calcification (IBGC)

(2014) Christer Betsholtz et al.   BRAIN PATHOLOGY

Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2

(2014) Qing Zhou et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan

(2013) Keren J. Carss et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification

(2013) Gaël Nicolas et al.   BRAIN

A functional variant in the CFI gene confers a high risk of age-related macular degeneration

(2013) Johannes P H van de Ven et al.   NATURE GENETICS

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

(2013) Annika Keller et al.   NATURE GENETICS

Genetic variants in GPR126 are associated with adolescent idiopathic scoliosis

(2013) Ikuyo Kou et al.   NATURE GENETICS

A Congenital Neutrophil Defect Syndrome Associated with Mutations in VPS45

(2013) Thierry Vilboux et al.   NEW ENGLAND JOURNAL OF MEDICINE

Inorganic Phosphate Export by the Retrovirus Receptor XPR1 in Metazoans

(2013) Donatella Giovannini et al.   Cell Reports

Hooked! Modeling human disease in zebrafish

(2012) Cristina Santoriello et al.   JOURNAL OF CLINICAL INVESTIGATION

Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis

(2012) Cheng Wang et al.   NATURE GENETICS

Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification

(2012) G. Nicolas et al.   NEUROLOGY

Modeling Neurodegeneration in Zebrafish

(2011) Yanwei Xi et al.   Current Neurology and Neuroscience Reports

NET37, a Nuclear Envelope Transmembrane Protein with Glycosidase Homology, Is Involved in Myoblast Differentiation

(2009) Kaustuv Datta et al.   JOURNAL OF BIOLOGICAL CHEMISTRY