Hereditary Spastic Paraplegia: From Genes, Cells and Networks to Novel Pathways for Drug Discovery

Spinal Cord Gray and White Matter Damage in Different Hereditary Spastic Paraplegia Subtypes

(2021) K.R. Servelhere et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Brain Damage and Gene Expression Across Hereditary Spastic Paraplegia Subtypes

(2021) Katiane R. Servelhere et al.   MOVEMENT DISORDERS

Metformin Promotes Axon Regeneration after Spinal Cord Injury through Inhibiting Oxidative Stress and Stabilizing Microtubule

(2020) Haoli Wang et al.   Oxidative Medicine and Cellular Longevity

Spastin mutations impair coordination between lipid droplet dispersion and reticulum

(2020) Yoan Arribat et al.   PLoS Genetics

Oxidative Stress-Induced Axon Fragmentation Is a Consequence of Reduced Axonal Transport in Hereditary Spastic Paraplegia SPAST Patient Neurons

(2020) Gautam Wali et al.   Frontiers in Neuroscience

Update on the Treatment of Ataxia: Medication and Emerging Therapies

(2020) Susan L. Perlman   Neurotherapeutics

Clinical and genetic update of hereditary spastic paraparesis

(2020) P. Lallemant-Dudek et al.   REVUE NEUROLOGIQUE

Mitochondrial Function in Hereditary Spastic Paraplegia: Deficits in SPG7 but Not SPAST Patient-Derived Stem Cells

(2020) Gautam Wali et al.   Frontiers in Neuroscience

Cholesterol Metabolism Is a Druggable Axis that Independently Regulates Tau and Amyloid-β in iPSC-Derived Alzheimer’s Disease Neurons

(2019) Rik van der Kant et al.   Cell Stem Cell

Hereditary spastic paraplegias: time for an objective case definition and a new nosology for neurogenetic disorders to facilitate biomarker/therapeutic studies

(2019) Liena E. O. Elsayed et al.   Expert Review of Neurotherapeutics

Are Cognitive Changes in Hereditary Spastic Paraplegias Restricted to Complicated Forms?

(2019) Laís Alves Jacinto-Scudeiro et al.   Frontiers in Neurology

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

(2019) Xiang Lin et al.   BRAIN

Spastin tethers lipid droplets to peroxisomes and directs fatty acid trafficking through ESCRT-III

(2019) Chi-Lun Chang et al.   JOURNAL OF CELL BIOLOGY

Multiparametric rapid screening of neuronal process pathology for drug target identification in HSP patient-specific neurons

(2019) Kristina Rehbach et al.   Scientific Reports

UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes

(2019) Haitian Nan et al.   JOURNAL OF HUMAN GENETICS

ER morphology and endo-lysosomal crosstalk: Functions and disease implications

(2019) Crystal A. Lee et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Lipid metabolic pathways converge in motor neuron degenerative diseases

(2019) Olivia J Rickman et al.   BRAIN

Life in the lumen: The multivesicular endosome

(2019) Jean Gruenberg   TRAFFIC

Impaired mitochondrial dynamics underlie axonal defects in hereditary spastic paraplegias

(2018) Kyle Denton et al.   HUMAN MOLECULAR GENETICS

Novel splice-site variant of UCHL1 in an Indian family with autosomal recessive spastic paraplegia-79

(2018) Aneek Das Bhowmik et al.   JOURNAL OF HUMAN GENETICS

Steroid Transport, Local Synthesis, and Signaling within the Brain: Roles in Neurogenesis, Neuroprotection, and Sexual Behaviors

(2018) Nicolas Diotel et al.   Frontiers in Neuroscience

Riluzole and edaravone: A tale of two amyotrophic lateral sclerosis drugs

(2018) Manoj Kumar Jaiswal   MEDICINAL RESEARCH REVIEWS

Endoplasmic reticulum stress alters ryanodine receptor function in the murine pancreatic β cell

(2018) Wataru R. Yamamoto et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

STRING v11: protein–protein association networks with increased coverage, supporting functional discovery in genome-wide experimental datasets

(2018) Damian Szklarczyk et al.   NUCLEIC ACIDS RESEARCH

Tideglusib Rescues Neurite Pathology of SPG11 iPSC Derived Cortical Neurons

(2018) Tatyana Pozner et al.   Frontiers in Neuroscience

Liver X receptors link lipid metabolism and inflammation

(2017) Ira G. Schulman   FEBS LETTERS

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

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

Hereditary spastic paraplegia: More than an upper motor neuron disease

(2017) L. Parodi et al.   REVUE NEUROLOGIQUE

Liraglutide restores chronic ER stress, autophagy impairments and apoptotic signalling in SH-SY5Y cells

(2017) Theodora Panagaki et al.   Scientific Reports

GSK3ß-dependent dysregulation of neurodevelopment in SPG11-patient induced pluripotent stem cell model

(2016) Himanshu K. Mishra et al.   ANNALS OF NEUROLOGY

Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients

(2016) Rebecca Schüle et al.   ANNALS OF NEUROLOGY

Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks

(2016) Paulo Victor Sgobbi de Souza et al.   CEREBELLUM

Reep1null mice reveal a converging role for hereditary spastic paraplegia proteins in lipid droplet regulation

(2016) Benoît Renvoisé et al.   HUMAN MOLECULAR GENETICS

Loss-of-function mutations in theSIGMAR1gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+signalling

(2016) Elisa Gregianin et al.   HUMAN MOLECULAR GENETICS

The GSK3–MAP1B pathway controls neurite branching and microtubule dynamics

(2016) Monia Barnat et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study

(2016) Andrea Martinuzzi et al.   PLoS One

Mechanism of impaired microtubule-dependent peroxisome trafficking and oxidative stress in SPAST-mutated cells from patients with Hereditary Spastic Paraplegia

(2016) Gautam Wali et al.   Scientific Reports

Form Follows Function: The Importance of Endoplasmic Reticulum Shape

(2015) L.M. Westrate et al.   Annual Review of Biochemistry

Dysfunction in endoplasmic reticulum-mitochondria crosstalk underlies SIGMAR1 loss of function mediated motor neuron degeneration

(2015) Nathalie Bernard-Marissal et al.   BRAIN

Gray and white matter alterations in hereditary spastic paraplegia type SPG4 and clinical correlations

(2015) Tobias Lindig et al.   JOURNAL OF NEUROLOGY

Structure and function of ER membrane contact sites with other organelles

(2015) Melissa J. Phillips et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Hereditary Spastic Paraplegia: Beyond Clinical Phenotypes toward a Unified Pattern of Central Nervous System Damage

(2015) Federica Agosta et al.   RADIOLOGY

Spastin Binds to Lipid Droplets and Affects Lipid Metabolism

(2015) Chrisovalantis Papadopoulos et al.   PLoS Genetics

Multimodal MRI-Based Study in Patients with SPG4 Mutations

(2015) Thiago J. R. Rezende et al.   PLoS One

Brain White Matter Involvement in Hereditary Spastic Paraplegias: Analysis with Multiple Diffusion Tensor Indices

(2014) G. Aghakhanyan et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons

(2014) S. Havlicek et al.   HUMAN MOLECULAR GENETICS

Pharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A

(2014) Peng-Peng Zhu et al.   HUMAN MOLECULAR GENETICS

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

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

Liver X receptors in lipid metabolism: opportunities for drug discovery

(2014) Cynthia Hong et al.   NATURE REVIEWS DRUG DISCOVERY

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

(2014) Luis Ruano et al.   NEUROEPIDEMIOLOGY

Low dose tubulin-binding drugs rescue peroxisome trafficking deficit in patient-derived stem cells in Hereditary Spastic Paraplegia

(2014) Y. Fan et al.   Biology Open

Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms

(2013) John K. Fink   ACTA NEUROPATHOLOGICA

Tract-based spatial statistics of diffusion tensor imaging in hereditary spastic paraplegia with thin corpus callosum reveals widespread white matter changes

(2013) Kader Karlı Oguz et al.   Diagnostic and Interventional Radiology

A patient-derived olfactory stem cell disease model for ataxia-telangiectasia

(2013) Romal Stewart et al.   HUMAN MOLECULAR GENETICS

Diffusion tensor imaging inSPG11- andSPG4-linked hereditary spastic paraplegia

(2013) Francesco Garaci et al.   INTERNATIONAL JOURNAL OF NEUROSCIENCE

An ESCRT–spastin interaction promotes fission of recycling tubules from the endosome

(2013) Rachel Allison et al.   JOURNAL OF CELL BIOLOGY

Loss of Spastin Function Results in Disease-Specific Axonal Defects in Human Pluripotent Stem Cell-Based Models of Hereditary Spastic Paraplegia

(2013) Kyle R. Denton et al.   STEM CELLS

Cellular Pathways of Hereditary Spastic Paraplegia

(2012) Craig Blackstone   Annual Review of Neuroscience

A patient-derived stem cell model of hereditary spastic paraplegia with SPAST mutations

(2012) G. Abrahamsen et al.   Disease Models & Mechanisms

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12

(2012) Gladys Montenegro et al.   JOURNAL OF CLINICAL INVESTIGATION

White and grey matter abnormalities in patients withSPG11mutations

(2012) Marcondes C França et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Treatment with trichostatin A initiated after disease onset delays disease progression and increases survival in a mouse model of amyotrophic lateral sclerosis

(2011) Young-Eun Yoo et al.   EXPERIMENTAL NEUROLOGY

Cytochrome P450s in the synthesis of cholesterol and bile acids - from mouse models to human diseases

(2011) Gregor Lorbek et al.   FEBS Journal

NRF2 Activation Restores Disease Related Metabolic Deficiencies in Olfactory Neurosphere-Derived Cells from Patients with Sporadic Parkinson's Disease

(2011) Anthony L. Cook et al.   PLoS One

At the crossroads of steroid hormone biosynthesis: The role, substrate specificity and evolutionary development of CYP17

(2010) Andrei A. Gilep et al.   BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS

Disease-specific, neurosphere-derived cells as models for brain disorders

(2010) N. Matigian et al.   Disease Models & Mechanisms

Whole brain-based analysis of regional white matter tract alterations in rare motor neuron diseases by diffusion tensor imaging

(2010) Alexander Unrath et al.   HUMAN BRAIN MAPPING

Specific pattern of early white-matter changes in pure hereditary spastic paraplegia

(2010) Thomas Duning et al.   MOVEMENT DISORDERS

Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis

(2009) Rebecca Schüle et al.   JOURNAL OF LIPID RESEARCH

Direct evidence for axonal transport defects in a novel mouse model of mutant spastin-induced hereditary spastic paraplegia (HSP) and human HSP patients

(2009) Paul R. Kasher et al.   JOURNAL OF NEUROCHEMISTRY

A clinical, genetic, and biochemical characterization ofSPG7mutations in a large cohort of patients with hereditary spastic paraplegia

(2008) Alessia Arnoldi et al.   HUMAN MUTATION

Decreased expression of the mitochondrial matrix proteases Lon and ClpP in cells from a patient with hereditary spastic paraplegia (SPG13)

(2008) J. Hansen et al.   NEUROSCIENCE