Inborn errors of coenzyme A metabolism and neurodegeneration

Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation

(2018) Anthony Drecourt et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Expanding the phenotype of SLC25A42 -associated mitochondrial encephalomyopathy

(2018) M. Almannai et al.   CLINICAL GENETICS

Changes in Red Blood Cell membrane lipid composition: A new perspective into the pathogenesis of PKAN

(2017) Manar Aoun 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

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

(2017) Ivano Di Meo et al.   Scientific Reports

Neurodegeneration with Brain Iron Accumulation

(2016) Susanne A. Schneider   Current Neurology and Neuroscience Reports

Coenzyme A corrects pathological defects in human neurons of PANK2‐associated neurodegeneration

(2016) Daniel I Orellana et al.   EMBO Molecular Medicine

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

(2016) Lili Huang et al.   Nature Chemical Biology

Coenzyme A: to make it or uptake it?

(2016) Ody C.M. Sibon et al.   NATURE REVIEWS MOLECULAR CELL 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

Mutational analysis of COASY in an Italian patient with NBIA

(2016) Grazia Annesi et al.   PARKINSONISM & RELATED DISORDERS

Down-regulation of coasy, the gene associated with NBIA-VI, reduces Bmp signaling, perturbs dorso-ventral patterning and alters neuronal development in zebrafish

(2016) Deepak Khatri et al.   Scientific Reports

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

(2015) Balaji Srinivasan et al.   Nature Chemical Biology

Mitochondrial iron and energetic dysfunction distinguish fibroblasts and induced neurons from pantothenate kinase-associated neurodegeneration patients

(2015) Paolo Santambrogio et al.   NEUROBIOLOGY OF DISEASE

Coenzyme A, more than ‘just’ a metabolic cofactor

(2014) Balaji Srinivasan et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

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

Molecular characterization of the heteromeric coenzyme A-synthesizing protein complex (CoA-SPC) in the yeastSaccharomyces cerevisiae

(2013) Judith Olzhausen et al.   FEMS YEAST RESEARCH

Proteomic Mapping of Mitochondria in Living Cells via Spatially Restricted Enzymatic Tagging

(2013) H.-W. Rhee et al.   SCIENCE

Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model

(2012) Dario Brunetti et al.   HUMAN MOLECULAR GENETICS

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

(2012) Matthew Garcia et al.   PLoS One

The human geneSLC25A17encodes a peroxisomal transporter of coenzyme A, FAD and NAD+

(2011) Gennaro Agrimi et al.   BIOCHEMICAL JOURNAL

Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration

(2011) M. C. Kruer et al.   BRAIN

Impaired Coenzyme A metabolism affects histone and tubulin acetylation inDrosophilaand human cell models of pantothenate kinase associated neurodegeneration

(2011) Katarzyna Siudeja et al.   EMBO Molecular Medicine

Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations

(2011) Valerio Leoni et al.   MOLECULAR GENETICS AND METABOLISM

Pantothenate kinase-2 (Pank2) silencing causes cell growth reduction, cell-specific ferroportin upregulation and iron deregulation

(2010) Maura Poli et al.   NEUROBIOLOGY OF DISEASE

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

Pantothenate kinase-associated neurodegeneration: insights from a Drosophila model

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

A Novel Member of Solute Carrier Family 25 (SLC25A42) Is a Transporter of Coenzyme A and Adenosine 3′,5′-Diphosphate in Human Mitochondria

(2009) Giuseppe Fiermonte et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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