A nop56 Zebrafish Loss-of-Function Model Exhibits a Severe Neurodegenerative Phenotype

Zebrafish Models of Autosomal Dominant Ataxias

(2021) Ana Quelle-Regaldie et al.   Cells

Zebrafish Models of Autosomal Recessive Ataxias

(2021) Ana Quelle-Regaldie et al.   Cells

Reduced C9orf72 function leads to defective synaptic vesicle release and neuromuscular dysfunction in zebrafish

(2021) Zoé Butti et al.   Communications Biology

Identifying Therapeutic Targets for Spinocerebellar Ataxia Type 3/Machado–Joseph Disease through Integration of Pathological Biomarkers and Therapeutic Strategies

(2020) Yu-Shuan Chen et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Reduced C9ORF72 function exacerbates gain of toxicity from ALS/FTD-causing repeat expansion in C9orf72

(2020) Qiang Zhu et al.   NATURE NEUROSCIENCE

Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36

(2020) Zachary T. McEachin et al.   NEURON

Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo

(2020) Tiffany W. Todd et al.   Cell Reports

Motor neuron disease-associated loss of nuclear TDP-43 is linked to DNA double-strand break repair defects

(2019) Joy Mitra et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Suppression of the yeast elongation factor Spt4 ortholog reduces expanded SCA36 GGCCUG repeat aggregation and cytotoxicity

(2019) Natsumi Furuta et al.   BRAIN RESEARCH

Zebrafish: Housing and husbandry recommendations

(2019) Peter Aleström et al.   LABORATORY ANIMALS

Long noncoding RNA FAM83A-AS1 facilitates hepatocellular carcinoma progression by binding with NOP58 to enhance the mRNA stability of FAM83A

(2019) Jinyu He et al.   BIOSCIENCE REPORTS

Spontaneous mutations of the Zpld1 gene in mice cause semicircular canal dysfunction but do not impair gravity receptor or hearing functions

(2019) Sarath Vijayakumar et al.   Scientific Reports

A zebrafish model for C9orf72 ALS reveals RNA toxicity as a pathogenic mechanism

(2018) Bart Swinnen et al.   ACTA NEUROPATHOLOGICA

Fibrillarin is essential for S-phase progression and neuronal differentiation in zebrafish dorsal midbrain and retina

(2018) Stéphanie Bouffard et al.   DEVELOPMENTAL BIOLOGY

C9orf72 is essential for neurodevelopment and motility mediated by Cyclin G1

(2018) Tu-Hsueh Yeh et al.   EXPERIMENTAL NEUROLOGY

Expression of C9orf72-related dipeptides impairs motor function in a vertebrate model

(2018) Amrutha Swaminathan et al.   HUMAN MOLECULAR GENETICS

Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons

(2018) Yingxiao Shi et al.   NATURE MEDICINE

Impaired DNA damage response signaling by FUS-NLS mutations leads to neurodegeneration and FUS aggregate formation

(2018) Marcel Naumann et al.   Nature Communications

Box C/D snoRNP Autoregulation by a cis-Acting snoRNA in the NOP56 Pre-mRNA

(2018) Søren Lykke-Andersen et al.   MOLECULAR CELL

Nucleolar Division in the Promastigote Stage of Leishmania major Parasite: A Nop56 Point of View

(2018) Tomás Nepomuceno-Mejía et al.   Biomed Research International

La ataxia espinocerebelosa 36 (SCA36): «Ataxia da Costa da Morte»

(2017) M. Arias et al.   NEUROLOGIA

A Pan-cancer Analysis of the Expression and Clinical Relevance of Small Nucleolar RNAs in Human Cancer

(2017) Jing Gong et al.   Cell Reports

Antisense Oligonucleotides Reduce RNA Foci in Spinocerebellar Ataxia 36 Patient iPSCs

(2017) Kosuke Matsuzono et al.   Molecular Therapy-Nucleic Acids

Gene expression profiling of granule cells and Purkinje cells in the zebrafish cerebellum

(2016) Miki Takeuchi et al.   JOURNAL OF COMPARATIVE NEUROLOGY

C9ORF72 interaction with cofilin modulates actin dynamics in motor neurons

(2016) Rajeeve Sivadasan et al.   NATURE NEUROSCIENCE

The Machado–Joseph Disease Deubiquitinase Ataxin-3 Regulates the Stability and Apoptotic Function of p53

(2016) Hongmei Liu et al.   PLOS BIOLOGY

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

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

p53, a translational regulator: contribution to its tumour-suppressor activity

(2015) V Marcel et al.   ONCOGENE

Cupulin Is a Zona Pellucida-Like Domain Protein and Major Component of the Cupula from the Inner Ear

(2014) Jens Dernedde et al.   PLoS One

Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood

(2013) Veronique V. Belzil et al.   ACTA NEUROPATHOLOGICA

Loss of function of C9orf72 causes motor deficits in a zebrafish model of Amyotrophic Lateral Sclerosis

(2013) Sorana Ciura et al.   ANNALS OF NEUROLOGY

Zebrafish midbrain slow-amplifying progenitors exhibit high levels of transcripts for nucleotide and ribosome biogenesis

(2013) G. Recher et al.   DEVELOPMENT

Evidence for Tissue-Specific JAK/STAT Target Genes in Drosophila Optic Lobe Development

(2013) H. Wang et al.   GENETICS

Interaction of FUS and HDAC1 regulates DNA damage response and repair in neurons

(2013) Wen-Yuan Wang et al.   NATURE NEUROSCIENCE

Early and selective reduction of NOP56 (Asidan) and RNA processing proteins in the motor neuron of ALS model mice

(2013) Kazunori Miyazaki et al.   NEUROLOGICAL RESEARCH

Burkitt’s lymphoma-associated c-Myc mutations converge on a dramatically altered target gene response and implicate Nol5a/Nop56 in oncogenesis

(2013) V H Cowling et al.   ONCOGENE

Elevated snoRNA biogenesis is essential in breast cancer

(2013) H Su et al.   ONCOGENE

Small nucleolar RNAs in cancer

(2012) Kaiissar Mannoor et al.   BIOCHIMICA ET BIOPHYSICA ACTA-REVIEWS ON CANCER

‘Costa da Morte’ ataxia is spinocerebellar ataxia 36: clinical and genetic characterization

(2012) María García-Murias et al.   BRAIN

Structurally Conserved Nop56/58 N-terminal Domain Facilitates Archaeal Box C/D Ribonucleoprotein-guided Methyltransferase Activity

(2012) Keith T. Gagnon et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Clinical features of SCA36: A novel spinocerebellar ataxia with motor neuron involvement (Asidan)

(2012) Y. Ikeda et al.   NEUROLOGY

Requirement for Zebrafish Ataxin-7 in Differentiation of Photoreceptors and Cerebellar Neurons

(2012) Constantin Yanicostas et al.   PLoS One

Expansion of Intronic GGCCTG Hexanucleotide Repeat in NOP56 Causes SCA36, a Type of Spinocerebellar Ataxia Accompanied by Motor Neuron Involvement

(2011) Hatasu Kobayashi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Spinocerebellar Ataxia Type 13 Mutant Potassium Channel Alters Neuronal Excitability and Causes Locomotor Deficits in Zebrafish

(2011) F. A. Issa et al.   JOURNAL OF NEUROSCIENCE

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

(2011) Alan E. Renton et al.   NEURON

The box C/D and H/ACA snoRNPs: key players in the modification, processing and the dynamic folding of ribosomal RNA

(2011) Nicholas J. Watkins et al.   Wiley Interdisciplinary Reviews-RNA

Proneural gene-linked neurogenesis in zebrafish cerebellum

(2010) Shuichi Kani et al.   DEVELOPMENTAL BIOLOGY

Fibrillarin and Nop56 interact before being co-assembled in box C/D snoRNPs

(2009) Tanguy Lechertier et al.   EXPERIMENTAL CELL RESEARCH

ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations

(2008) F. Gianfrancesco et al.   NEUROSCIENCE