Swimming in Deep Water: Zebrafish Modeling of Complicated Forms of Hereditary Spastic Paraplegia and Spastic Ataxia

Management of Hereditary Spastic Paraplegia: A Systematic Review of the Literature

(2019) Marta Bellofatto et al.   Frontiers in Neurology

Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes

(2019) Ewelina Elert-Dobkowska et al.   NEUROGENETICS

Update on the Genetics of Spastic Paraplegias

(2019) Maxime Boutry et al.   Current Neurology and Neuroscience Reports

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

(2019) Mohammad Ali Farazi Fard et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Two novel homozygous mutations of CAPN1 in Chinese patients with hereditary spastic paraplegia and literatures review

(2019) Fang Peng et al.   Orphanet Journal of Rare Diseases

Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches

(2019) Samuel Shribman et al.   LANCET NEUROLOGY

Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia

(2019) Frédéric M Vaz et al.   BRAIN

Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia

(2019) V. A. Kadnikova et al.   Scientific Reports

Model construction of Niemann-Pick type C disease in zebrafish

(2018) Yusheng Lin et al.   BIOLOGICAL CHEMISTRY

Machado-Joseph disease / Spinocerebellar ataxia type 3:lessons from disease pathogenesis and clues into therapy

(2018) Carlos Matos et al.   JOURNAL OF NEUROCHEMISTRY

Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to Neurodegeneration

(2018) Maxime Boutry et al.   Cell Reports

ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary spastic paraplegia types AR-SPG15 and AR-SPG11 have different effects on autophagy and endocytosis

(2018) Chiara Vantaggiato et al.   Autophagy

BMP- and neuropilin 1-mediated motor axon navigation relies on spastin alternative translation

(2018) Nicolas Jardin et al.   DEVELOPMENT

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

Hereditary Spastic Paraplegia: gain-of-function mechanisms revealed by new transgenic mouse

(2018) Liang Qiang et al.   HUMAN MOLECULAR GENETICS

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

(2018) Angelica D'Amore et al.   Frontiers in Neurology

A zebrafish model of X-linked adrenoleukodystrophy recapitulates key disease features and demonstrates a developmental requirement for abcd1 in oligodendrocyte patterning and myelination

(2017) Lauren R. Strachan et al.   HUMAN MOLECULAR GENETICS

Defects in ER–endosome contacts impact lysosome function in hereditary spastic paraplegia

(2017) Rachel Allison et al.   JOURNAL OF CELL BIOLOGY

Calpain Inhibition Is Protective in Machado–Joseph Disease Zebrafish Due to Induction of Autophagy

(2017) Maxinne Watchon et al.   JOURNAL OF NEUROSCIENCE

Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways

(2017) Matthis Synofzik et al.   MOVEMENT DISORDERS

Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration

(2017) Julien Branchu et al.   NEUROBIOLOGY OF DISEASE

Presenilin-1 Targeted Morpholino Induces Cognitive Deficits, Increased Brain Aβ1−42 and Decreased Synaptic Marker PSD-95 in Zebrafish Larvae

(2017) Laura Roesler Nery et al.   NEUROCHEMICAL RESEARCH

Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis

(2017) Daniele Galatolo et al.   NEUROGENETICS

Hereditary spastic paraplegia: More than an upper motor neuron disease

(2017) L. Parodi et al.   REVUE NEUROLOGIQUE

Lysosomal and Mitochondrial Liaisons in Niemann-Pick Disease

(2017) Sandra Torres et al.   Frontiers in Physiology

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

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

Pharmacological treatment and BBB-targeted genetic therapy for MCT8-dependent hypomyelination in zebrafish

(2016) David Zada et al.   Disease Models & Mechanisms

Conserved pharmacological rescue of hereditary spastic paraplegia-related phenotypes across model organisms

(2016) Carl Julien et al.   HUMAN MOLECULAR GENETICS

L1.2, the zebrafish paralog of L1.1 and ortholog of the mammalian cell adhesion molecule L1 contributes to spinal cord regeneration in adult zebrafish

(2016) Tianli Chen et al.   RESTORATIVE NEUROLOGY AND NEUROSCIENCE

Overexpression ofKLC2due to a homozygous deletion in the non-coding region causes SPOAN syndrome

(2015) Uirá S. Melo et al.   HUMAN MOLECULAR GENETICS

Identification and Functional Analysis of a SLC33A1: c.339T>G (p.Ser113Arg) Variant in the Original SPG42 Family

(2015) Fei Mao et al.   HUMAN MUTATION

Clinical and genetic heterogeneity in hereditary spastic paraplegias: From SPG1 to SPG72 and still counting

(2015) S. Klebe et al.   REVUE NEUROLOGIQUE

Deletion of a kinesin I motor unmasks a mechanism of homeostatic branching control by neurotrophin-3

(2015) Thomas O Auer et al.   eLife

Fishing for causes and cures of motor neuron disorders

(2014) S. A. Patten et al.   Disease Models & Mechanisms

Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms

(2014) Temistocle Lo Giudice et al.   EXPERIMENTAL NEUROLOGY

Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia

(2014) Francesc Pérez-Brangulí et al.   HUMAN MOLECULAR GENETICS

Protrudin Regulates Endoplasmic Reticulum Morphology and Function Associated with the Pathogenesis of Hereditary Spastic Paraplegia

(2014) Yutaka Hashimoto et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

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

Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing

(2014) Anke Hensiek et al.   JOURNAL OF NEUROLOGY

Unique Function of Kinesin Kif5A in Localization of Mitochondria in Axons

(2014) P. D. Campbell et al.   JOURNAL OF NEUROSCIENCE

The Global Epidemiology of Hereditary Ataxia and Spastic Paraplegia: A Systematic Review of Prevalence Studies

(2014) Luis Ruano et al.   NEUROEPIDEMIOLOGY

Zebrafish models of human motor neuron diseases: Advantages and limitations

(2014) Patrick J. Babin et al.   PROGRESS IN NEUROBIOLOGY

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

(2014) G. Novarino et al.   SCIENCE

Souffle/Spastizin Controls Secretory Vesicle Maturation during Zebrafish Oogenesis

(2014) Palsamy Kanagaraj et al.   PLoS Genetics

Altered Behavioral Performance and Live Imaging of Circuit-Specific Neural Deficiencies in a Zebrafish Model for Psychomotor Retardation

(2014) David Zada et al.   PLoS Genetics

Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11

(2014) Benoît Renvoisé et al.   Annals of Clinical and Translational Neurology

Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia

(2013) Elodie Martin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mct8-Deficient Mice Have Increased Energy Expenditure and Reduced Fat Mass That Is Abrogated by Normalization of Serum T3Levels

(2013) Caterina Di Cosmo et al.   ENDOCRINOLOGY

Temporal and tissue specific gene expression patterns of the zebrafish kinesin-1 heavy chain family, kif5s, during development

(2013) Philip D. Campbell et al.   GENE EXPRESSION PATTERNS

Efficient genome editing in zebrafish using a CRISPR-Cas system

(2013) Woong Y Hwang et al.   NATURE BIOTECHNOLOGY

Knockdown of Pnpla6 protein results in motor neuron defects in zebrafish

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

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

Alleviation of seipinopathy-related ER stress by triglyceride storage

(2012) M. Holtta-Vuori et al.   HUMAN MOLECULAR GENETICS

Role of spastin and protrudin in neurite outgrowth

(2012) Chuanling Zhang et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis

(2012) Yifat Zivony-Elboum et al.   JOURNAL OF MEDICAL GENETICS

Hereditary spastic paraplegia-causing mutations in atlastin-1 interfere with BMPRII trafficking

(2012) Jiali Zhao et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

(2012) Jijun Wan et al.   NATURE GENETICS

Spatacsin and spastizin act in the same pathway required for proper spinal motor neuron axon outgrowth in zebrafish

(2012) Elodie Martin et al.   NEUROBIOLOGY OF DISEASE

Simple Methods for Generating and Detecting Locus-Specific Mutations Induced with TALENs in the Zebrafish Genome

(2012) Timothy J. Dahlem et al.   PLoS Genetics

Stage-Specific Optimization of Activin/Nodal and BMP Signaling Promotes Cardiac Differentiation of Mouse and Human Pluripotent Stem Cell Lines

(2011) Steven J. Kattman et al.   Cell Stem Cell

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

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

Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases

(2010) Christoph S. Clemen et al.   BRAIN

The ESCRT complexes

(2010) James H. Hurley   CRITICAL REVIEWS IN BIOCHEMISTRY AND MOLECULAR BIOLOGY

Mice deficient in MCT8 reveal a mechanism regulating thyroid hormone secretion

(2010) Caterina Di Cosmo et al.   JOURNAL OF CLINICAL INVESTIGATION

Small-molecule inhibitors of bone morphogenic protein and activin/nodal signals promote highly efficient neural induction from human pluripotent stem cells

(2010) Asuka Morizane et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Zebrafish atlastin controls motility and spinal motor axon architecture via inhibition of the BMP pathway

(2010) Coralie Fassier et al.   NATURE NEUROSCIENCE

Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish

(2010) Laura Southgate et al.   NEUROGENETICS

Molecular Motors in Neurons: Transport Mechanisms and Roles in Brain Function, Development, and Disease

(2010) Nobutaka Hirokawa et al.   NEURON

Early Embryonic Gene Expression Profiling of Zebrafish Prion Protein (Prp2) Morphants

(2010) Rasoul Nourizadeh-Lillabadi et al.   PLoS One

Spastic Paraplegia, Optic Atrophy, and Neuropathy: New Observations, Locus Refinement, and Exclusion of Candidate Genes

(2009) Lúcia Inês Macedo-Souza et al.   ANNALS OF HUMAN GENETICS

Hereditary spastic paraplegia and axonal motor neuropathy caused by a novel SPG3A de novo mutation

(2009) Carlo Fusco et al.   BRAIN & DEVELOPMENT

Myofibrillar Myopathies: A Clinical and Myopathological Guide

(2009) Rolf Schröder et al.   BRAIN PATHOLOGY

Homotypic fusion of ER membranes requires the dynamin-like GTPase Atlastin

(2009) Genny Orso et al.   NATURE

SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum

(2009) C. Goizet et al.   NEUROLOGY

The myelin proteolipid DMalpha in fishes

(2009) Christian Brösamle   Neuron Glia Biology

A Missense Mutation in SLC33A1, which Encodes the Acetyl-CoA Transporter, Causes Autosomal-Dominant Spastic Paraplegia (SPG42)

(2008) Pengfei Lin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome

(2008) Sylvain Hanein et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Characterization and comparative expression of zebrafish calpain system genes during early development

(2008) Stephanie E. Lepage et al.   DEVELOPMENTAL DYNAMICS

Als2 mRNA splicing variants detected in KO mice rescue severe motor dysfunction phenotype in Als2 knock-down zebrafish

(2008) Francois Gros-Louis et al.   HUMAN MOLECULAR GENETICS

Characterization of the Zebrafishatxn1/axhGene Family

(2008) Kerri M. Carlson et al.   JOURNAL OF NEUROGENETICS

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

(2008) Sara Salinas et al.   LANCET NEUROLOGY

Dorsomorphin, a Selective Small Molecule Inhibitor of BMP Signaling, Promotes Cardiomyogenesis in Embryonic Stem Cells

(2008) Jijun Hao et al.   PLoS One

Calpain in the CNS: From Synaptic Function to Neurotoxicity

(2008) J. Liu et al.   Science Signaling

Spastin Couples Microtubule Severing to Membrane Traffic in Completion of Cytokinesis and Secretion

(2008) James W. Connell et al.   TRAFFIC

Molecular cloning and expression analysis of cDNA ends of chicken neuropathy target esterase

(2007) Ping-An Chang et al.   CHEMICO-BIOLOGICAL INTERACTIONS