Redesigning therapies for pantothenate kinase–associated neurodegeneration

Emerging Disease-Modifying Therapies in Neurodegeneration With Brain Iron Accumulation (NBIA) Disorders

(2021) Vassilena Iankova et al.   Frontiers in Neurology

Natural history and genotype‐phenotype correlation of pantothenate kinase‐associated neurodegeneration

(2020) Xuting Chang et al.   CNS Neuroscience & Therapeutics

A pantothenate kinase-deficient mouse model reveals a gene expression program associated with brain coenzyme a reduction

(2020) Chitra Subramanian et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Pilot trial on the efficacy and safety of pantethine in children with pantothenate kinase-associated neurodegeneration: a single-arm, open-label study

(2020) Xuting Chang et al.   Orphanet Journal of Rare Diseases

Exploring Yeast as a Study Model of Pantothenate Kinase-Associated Neurodegeneration and for the Identification of Therapeutic Compounds

(2020) Camilla Ceccatelli Berti et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

The Pathophysiological Role of CoA

(2020) Aleksandra Czumaj et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Cyclic Phosphopantothenic Acid Prodrugs for Treatment of Pantothenate Kinase-Associated Neurodegeneration

(2020) Giulio Auciello et al.   JOURNAL OF MEDICINAL CHEMISTRY

Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase–Associated Neurodegeneration

(2020) Thomas Klopstock et al.   MOVEMENT DISORDERS

Brain iron is associated with accelerated cognitive decline in people with Alzheimer pathology

(2019) Scott Ayton et al.   MOLECULAR PSYCHIATRY

Inborn errors of coenzyme A metabolism and neurodegeneration

(2019) Ivano Di Meo et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Human pantothenate kinase 4 is a pseudo‐pantothenate kinase

(2019) Jiangwei Yao et al.   PROTEIN SCIENCE

AAV9 Vector: a Novel modality in gene therapy for spinal muscular atrophy

(2019) Rithu Pattali et al.   GENE THERAPY

Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study

(2019) Thomas Klopstock et al.   LANCET NEUROLOGY

4′‐Phosphopantetheine corrects CoA, iron, and dopamine metabolic defects in mammalian models of PKAN

(2019) Suh Young Jeong et al.   EMBO Molecular Medicine

CoA‐dependent activation of mitochondrial acyl carrier protein links four neurodegenerative diseases

(2019) Roald A Lambrechts et al.   EMBO Molecular Medicine

The yeast pantothenate kinase Cab1 is a master regulator of sterol metabolism and of susceptibility to ergosterol biosynthesis inhibitors

(2019) Joy E. Chiu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Clinical Evidence Supporting Early Treatment Of Patients With Spinal Muscular Atrophy: Current Perspectives

(2019) Tamara Dangouloff et al.   Therapeutics and Clinical Risk Management

Adeno-Associated Viral Vectors in Neuroscience Research

(2019) David L. Haggerty et al.   Molecular Therapy-Methods & Clinical Development

Pantothenate Rescues Iron Accumulation in Pantothenate Kinase-Associated Neurodegeneration Depending on the Type of Mutation

(2018) Mónica Álvarez-Córdoba et al.   MOLECULAR NEUROBIOLOGY

A therapeutic approach to pantothenate kinase associated neurodegeneration

(2018) Lalit Kumar Sharma et al.   Nature Communications

Excess coenzyme A reduces skeletal muscle performance and strength in mice overexpressing human PANK2

(2017) Deborah R. Corbin et al.   MOLECULAR GENETICS AND METABOLISM

Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN)

(2017) Penelope Hogarth et al.   MOLECULAR GENETICS AND METABOLISM

iPSC-derived neuronal models of PANK2-associated neurodegeneration reveal mitochondrial dysfunction contributing to early disease

(2017) Charles Arber et al.   PLoS One

Parkinson disease

(2017) Werner Poewe et al.   Nature Reviews Disease Primers

Acetyl-4′-phosphopantetheine is stable in serum and prevents phenotypes induced by pantothenate kinase deficiency

(2017) Ivano Di Meo et al.   Scientific Reports

Trafficking of adeno-associated virus vectors across a model of the blood-brain barrier; a comparative study of transcytosis and transduction using primary human brain endothelial cells

(2016) Steven F. Merkel et al.   JOURNAL OF NEUROCHEMISTRY

A family of metal-dependent phosphatases implicated in metabolite damage-control

(2016) Lili Huang et al.   Nature Chemical Biology

Knock-down of pantothenate kinase 2 severely affects the development of the nervous and vascular system in zebrafish, providing new insights into PKAN disease

(2016) Daniela Zizioli et al.   NEUROBIOLOGY OF DISEASE

Pallidal neuronal apolipoprotein E in pantothenate kinase-associated neurodegeneration recapitulates ischemic injury to the globus pallidus

(2015) Randall L. Woltjer et al.   MOLECULAR GENETICS AND METABOLISM

Correction of a genetic deficiency in pantothenate kinase 1 using phosphopantothenate replacement therapy

(2015) Stephen P. Zano et al.   MOLECULAR GENETICS AND METABOLISM

Genome-wide identification of zero nucleotide recursive splicing in Drosophila

(2015) Michael O. Duff et al.   NATURE

Extracellular 4′-phosphopantetheine is a source for intracellular coenzyme A synthesis

(2015) Balaji Srinivasan et al.   Nature Chemical Biology

Induction of Neuron-Specific Degradation of Coenzyme A Models Pantothenate Kinase-Associated Neurodegeneration by Reducing Motor Coordination in Mice

(2015) Stephanie A. Shumar et al.   PLoS One

Physiological roles of the pantothenate kinases

(2014) Lorraine E. Dansie et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

A comparative encyclopedia of DNA elements in the mouse genome

(2014) Feng Yue et al.   NATURE

Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms

(2014) Sonia Levi et al.   Frontiers in Pharmacology

Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation

(2013) Sabrina Dusi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model

(2013) Dario Brunetti et al.   BRAIN

Iron dysregulation in movement disorders

(2012) Petr Dusek et al.   NEUROBIOLOGY OF DISEASE

Germline Deletion of Pantothenate Kinases 1 and 2 Reveals the Key Roles for CoA in Postnatal Metabolism

(2012) Matthew Garcia et al.   PLoS One

Hemoglobin level in older persons and incident Alzheimer disease: Prospective cohort analysis

(2011) R. C. Shah et al.   NEUROLOGY

Pantethine rescues a Drosophila model for pantothenate kinase-associated neurodegeneration

(2010) A. Rana et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetic analysis of coenzyme A biosynthesis in the yeast Saccharomyces cerevisiae: identification of a conditional mutation in the pantothenate kinase gene CAB1

(2009) Judith Olzhausen et al.   CURRENT GENETICS

Pantothenate kinase-associated neurodegeneration: insights from a Drosophila model

(2009) Z. Wu et al.   HUMAN MOLECULAR GENETICS

De novo CoA biosynthesis is required to maintain DNA integrity during development of the Drosophila nervous system

(2008) Floris Bosveld et al.   HUMAN MOLECULAR GENETICS