Zebrafish Models of Autosomal Recessive Ataxias

Efficient clofilium tosylate-mediated rescue of POLG-related disease phenotypes in zebrafish

(2021) Nicola Facchinello et al.   Cell Death & Disease

Zebrafish Models of Autosomal Dominant Ataxias

(2021) Ana Quelle-Regaldie et al.   Cells

Genetic compensation in a stable slc25a46 mutant zebrafish: A case for using F0 CRISPR mutagenesis to study phenotypes caused by inherited disease

(2020) Elena Buglo et al.   PLoS One

Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations

(2020) Dale Bryant et al.   Scientific Reports

Vitamin E is necessary for zebrafish nervous system development

(2020) Brian Head et al.   Scientific Reports

Mutant Ahi1 Affects Retinal Axon Projection in Zebrafish via Toxic Gain of Function

(2019) Louyin Zhu et al.   Frontiers in Cellular Neuroscience

Ciliary genes arl13b, ahi1 and cc2d2a differentially modify expression of visual acuity phenotypes but do not enhance retinal degeneration due to mutation of cep290 in zebrafish

(2019) Emma M. Lessieur et al.   PLoS One

The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force

(2019) Marie Beaudin et al.   CEREBELLUM

A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling

(2019) Kari-Anne M. Frikstad et al.   Cell Reports

Cell senescence contributes to tissue regeneration in zebrafish

(2019) Sabela Da Silva‐Álvarez et al.   AGING CELL

Model construction of Niemann-Pick type C disease in zebrafish

(2018) Yusheng Lin et al.   BIOLOGICAL CHEMISTRY

A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay

(2018) Jessika Johannsen et al.   NEUROGENETICS

BiallelicSQSTM1mutations in early-onset, variably progressive neurodegeneration

(2018) Valentina Muto et al.   NEUROLOGY

The ciliopathy protein TALPID3/KIAA0586 acts upstream of Rab8 activation in zebrafish photoreceptor outer segment formation and maintenance

(2018) Irene Ojeda Naharros et al.   Scientific Reports

Modeling Niemann-Pick disease type C1 in zebrafish: a robust platform forin vivoscreening of candidate therapeutic compounds

(2018) Wei-Chia Tseng et al.   Disease Models & Mechanisms

Animal models of neurodegenerative diseases

(2018) Ted M. Dawson et al.   NATURE NEUROSCIENCE

CAPN1 mutations: Expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia

(2018) Aakash Shetty et al.   European Journal of Medical Genetics

Zebrafish models for personalized psychiatry: Insights from individual, strain and sex differences, and modeling gene x environment interactions

(2018) Andrey D. Volgin et al.   JOURNAL OF NEUROSCIENCE RESEARCH

SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human

(2018) Vietxuan Phan et al.   NEUROBIOLOGY OF DISEASE

Up-regulation of autophagy-related gene 5 (ATG5) protects dopaminergic neurons in a zebrafish model of Parkinson's disease

(2017) Zhan-ying Hu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC

(2017) Angèle Tingaud-Sequeira et al.   NEUROBIOLOGY OF DISEASE

Guidelines for morpholino use in zebrafish

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

Metformin Inhibits Cyst Formation in a Zebrafish Model of Polycystin-2 Deficiency

(2017) Ming-Yang Chang et al.   Scientific Reports

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

(2016) Estelle Colin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

(2016) Ziv Gan-Or et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Autophagy regulates cytoplasmic remodeling during cell reprogramming in a zebrafish model of muscle regeneration

(2016) Alfonso Saera-Vila et al.   Autophagy

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia

(2016) Jijun Wan et al.   BRAIN

Loss of laminin alpha 1 results in multiple structural defects and divergent effects on adhesion during vertebrate optic cup morphogenesis

(2016) Chase D. Bryan et al.   DEVELOPMENTAL BIOLOGY

Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome

(2016) Susanne Roosing et al.   HUMAN GENETICS

Autophagy activators suppress cystogenesis in an autosomal dominant polycystic kidney disease model

(2016) Ping Zhu et al.   HUMAN MOLECULAR GENETICS

Assignment of Functional Relevance to Genes at Type 2 Diabetes-Associated Loci Through Investigation of β-Cell Mass Deficits

(2016) Elizabeth A. O'Hare et al.   MOLECULAR ENDOCRINOLOGY

SLC25A46 mutations underlie progressive myoclonic ataxia with optic atrophy and neuropathy

(2016) Gavin Charlesworth et al.   MOVEMENT DISORDERS

Wwox–Brca1 interaction: role in DNA repair pathway choice

(2016) M S Schrock et al.   ONCOGENE

Characterization of Zebrafish Models of Marinesco-Sjögren Syndrome

(2016) Genri Kawahara et al.   PLoS One

Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay

(2016) Myungjin Kim et al.   eLife

Function Over Form: Modeling Groups of Inherited Neurological Conditions in Zebrafish

(2016) Robert A. Kozol et al.   Frontiers in Molecular Neuroscience

UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia

(2016) Ranhui Duan et al.   PLoS One

Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy

(2016) Federico Sicca et al.   Scientific Reports

BNIP-H Recruits the Cholinergic Machinery to Neurite Terminals to Promote Acetylcholine Signaling and Neuritogenesis

(2015) Jichao Sun et al.   DEVELOPMENTAL CELL

Nonsense mutation in theWDR73gene is associated with Galloway-Mowat syndrome

(2015) Tawfeg Ben-Omran et al.   JOURNAL OF MEDICAL GENETICS

VALPROIC ACID EXTENDS LIFESPAN OF THE ZEBRAFISH MODEL OF CLN2 DISEASE (LATE INFANTILE NEURONAL CEROID LIPOFUSCINOSIS)

(2015) Fahad Mahmood et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

(2015) Alexander J Abrams et al.   NATURE GENETICS

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

(2015) Naiara Akizu et al.   NATURE GENETICS

SIL1-related Marinesco–Sjoegren syndrome (MSS) with associated motor neuronopathy and bradykinetic movement disorder

(2015) Susan Byrne et al.   NEUROMUSCULAR DISORDERS

Zebrafish lacking functional DNA polymerase gamma survive to juvenile stage, despite rapid and sustained mitochondrial DNA depletion, altered energetics and growth

(2015) Jennifer J. Rahn et al.   NUCLEIC ACIDS RESEARCH

Serotonin Promotes Development and Regeneration of Spinal Motor Neurons in Zebrafish

(2015) Antón Barreiro-Iglesias et al.   Cell Reports

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

(2015) Claudia Gonzaga-Jauregui et al.   Cell Reports

Loss ofwwoxexpression in zebrafish embryos causes edema and alters Ca2+dynamics

(2015) Yusuke Tsuruwaka et al.   PeerJ

Pharmacological Characterization of an Antisense Knockdown Zebrafish Model of Dravet Syndrome: Inhibition of Epileptic Seizures by the Serotonin Agonist Fenfluramine

(2015) Yifan Zhang et al.   PLoS One

Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy

(2014) Kimberly A. Aldinger et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Autophagy is essential for cardiac morphogenesis during vertebrate development

(2014) Eunmyong Lee et al.   Autophagy

Roles of carbonic anhydrase 8 in neuronal cells and zebrafish

(2014) Min-Syuan Huang et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Sqstm1 knock-down causes a locomotor phenotype ameliorated by rapamycin in a zebrafish model of ALS/FTLD

(2014) Serena Lattante et al.   HUMAN MOLECULAR GENETICS

Mutation ofPOC1Bin a Severe Syndromic Retinal Ciliopathy

(2014) Bodo B. Beck et al.   HUMAN MUTATION

Neuropathy target esterase impairments cause Oliver–McFarlane and Laurence–Moon syndromes

(2014) Robert B Hufnagel et al.   JOURNAL OF MEDICAL GENETICS

A familial late-onset hereditary ataxia mimicking pontocerebellar hypoplasia caused by a novel TSEN54 mutation

(2014) YI QIAN et al.   Molecular Medicine Reports

Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome

(2014) R. Burns et al.   NEUROLOGY

Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy

(2013) Karina Tuz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

(2013) Matthis Synofzik et al.   BRAIN

The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation

(2013) Martial Mallaret et al.   BRAIN

A zebrafish model of CLN2 disease is deficient in tripeptidyl peptidase 1 and displays progressive neurodegeneration accompanied by a reduction in proliferation

(2013) Fahad Mahmood et al.   BRAIN

Autophagy is required for zebrafish caudal fin regeneration

(2013) M Varga et al.   CELL DEATH AND DIFFERENTIATION

Efficient CRISPR/Cas9 genome editing with low off-target effects in zebrafish

(2013) A. Hruscha et al.   DEVELOPMENT

Distinct enhancers of ptf1a mediate specification and expansion of ventral pancreas in zebrafish

(2013) Evanthia Pashos et al.   DEVELOPMENTAL BIOLOGY

Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome

(2013) F. Mahmood et al.   Disease Models & Mechanisms

Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants inTPP1, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease)

(2013) Yu Sun et al.   HUMAN MUTATION

Joubert syndrome: congenital cerebellar ataxia with the molar tooth

(2013) Marta Romani et al.   LANCET NEUROLOGY

The zebrafish reference genome sequence and its relationship to the human genome

(2013) Kerstin Howe et al.   NATURE

Genome engineering using the CRISPR-Cas9 system

(2013) F Ann Ran et al.   Nature Protocols

Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination

(2013) David H. Margolin et al.   NEW ENGLAND JOURNAL OF MEDICINE

Epilepsy in kcnj10 Morphant Zebrafish Assessed with a Novel Method for Long-Term EEG Recordings

(2013) Anselm A. Zdebik et al.   PLoS One

Cellular Requirements for Building a Retinal Neuropil

(2013) Owen Randlett et al.   Cell Reports

Knockdown of Pnpla6 protein results in motor neuron defects in zebrafish

(2012) Y. Song et al.   Disease Models & Mechanisms

Abnormal cerebellar development and ataxia in CARP VIII morphant zebrafish

(2012) Ashok Aspatwar et al.   HUMAN MOLECULAR GENETICS

Epistatic dissection of laminin-receptor interactions in dystrophic zebrafish muscle

(2012) T. E. Sztal et al.   HUMAN MOLECULAR GENETICS

NPC1 defect results in abnormal platelet formation and function: studies in Niemann–Pick disease type C1 patients and zebrafish

(2012) Sophie Louwette et al.   HUMAN MOLECULAR GENETICS

The α-Tocopherol Transfer Protein Is Essential for Vertebrate Embryogenesis

(2012) Galen W. Miller et al.   PLoS One

Evidence of a role of inositol polyphosphate 5-phosphatase INPP5E in cilia formation in zebrafish

(2012) Na Luo et al.   VISION RESEARCH

Expression pattern and functions of autophagy-related geneatg5in zebrafish organogenesis

(2011) Zhanying Hu et al.   Autophagy

Zebrafish as a model to study cardiac development and human cardiac disease

(2011) J. Bakkers   CARDIOVASCULAR RESEARCH

Modelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal development

(2011) Roslyn J. Simms et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Impairment of the tRNA-splicing endonuclease subunit 54 (tsen54) gene causes neurological abnormalities and larval death in zebrafish models of pontocerebellar hypoplasia

(2011) Paul R. Kasher et al.   HUMAN MOLECULAR GENETICS

The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking

(2011) Ruxandra Bachmann-Gagescu et al.   HUMAN MOLECULAR GENETICS

Accumulation of the Raf-1 Kinase Inhibitory Protein (Rkip) Is Associated with Cep290-mediated Photoreceptor Degeneration in Ciliopathies

(2011) Carlos A. Murga-Zamalloa et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Requirement of Npc1 and availability of cholesterol for early embryonic cell movements in zebrafish

(2011) Tyler Schwend et al.   JOURNAL OF LIPID RESEARCH

Origin and Determination of Inhibitory Cell Lineages in the Vertebrate Retina

(2011) P. R. Jusuf et al.   JOURNAL OF NEUROSCIENCE

Zebrafish (Danio rerio) fed vitamin E-deficient diets produce embryos with increased morphologic abnormalities and mortality

(2011) Galen W. Miller et al.   JOURNAL OF NUTRITIONAL BIOCHEMISTRY

Correction: Zebrafish as a Model System to Study the Physiological Function of Telomeric Protein TPP1

(2011) Yiying Xie et al.   PLoS One

Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism

(2010) Torunn Fiskerstrand et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Zebrafish models for the functional genomics of neurogenetic disorders

(2010) Edor Kabashi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Wolfram syndrome and WFS1 gene

(2010) L Rigoli et al.   CLINICAL GENETICS

Niemann-Pick disease type C

(2010) Marie T Vanier   Orphanet Journal of Rare Diseases

Cerebellar ataxias

(2009) Mario Manto et al.   CURRENT OPINION IN NEUROLOGY

Basal body stability and ciliogenesis requires the conserved component Poc1

(2009) Chad G. Pearson et al.   JOURNAL OF CELL BIOLOGY

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

(2009) Hemant Khanna et al.   NATURE GENETICS

Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10

(2009) U. I. Scholl et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait

(2009) Seval Türkmen et al.   PLoS Genetics

Graded levels of Ptf1a differentially regulate endocrine and exocrine fates in the developing pancreas

(2008) P. D. S. Dong et al.   GENES & DEVELOPMENT

Genetic and physical interaction between the NPHP5 and NPHP6 gene products

(2008) Tobias Schäfer et al.   HUMAN MOLECULAR GENETICS

Restoration of renal function in zebrafish models of ciliopathies

(2008) Jonathan L. Tobin et al.   PEDIATRIC NEPHROLOGY