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

Megaconial congenital muscular dystrophy due to loss-of-function mutations in choline kinase β

(2013) Satomi Mitsuhashi et al.   CURRENT OPINION IN NEUROLOGY

Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: Extending the clinical and pathological phenotype

(2013) Ros Quinlivan et al.   NEUROMUSCULAR DISORDERS

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

Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases

(2012) F. Lamari et al.   JOURNAL OF INHERITED METABOLIC 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

Neuroimaging Features of Neurodegeneration with Brain Iron Accumulation

(2011) M.C. Kruer et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Ultrastructural Mitochondrial Abnormalities in Patients With Sporadic Amyotrophic Lateral Sclerosis

(2011) Laura Napoli   ARCHIVES OF NEUROLOGY

Diverse biological activities of the vascular non-inflammatory molecules – The Vanin pantetheinases

(2011) Belinda J. Kaskow et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

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

(2011) M. C. Kruer et al.   BRAIN

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

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

Enhancement of L-3-hydroxybutyryl-CoA dehydrogenase activity and circulating ketone body levels by pantethine. Relevance to dopaminergic injury

(2010) Emilie Cornille et al.   BMC NEUROSCIENCE

Effects of cysteamine on MPTP-induced dopaminergic neurodegeneration in mice

(2010) Linjuan Sun et al.   BRAIN RESEARCH

Cystamine metabolism and brain transport properties: clinical implications for neurodegenerative diseases

(2010) Mélanie Bousquet et al.   JOURNAL OF NEUROCHEMISTRY

Pantothenate Kinase 1 Is Required to Support the Metabolic Transition from the Fed to the Fasted State

(2010) Roberta Leonardi et al.   PLoS One

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

Potential of cystamine and cysteamine in the treatment of neurodegenerative diseases

(2010) C. Gibrat et al.   PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY

Twice-Daily Cysteamine Bitartrate Therapy for Children with Cystinosis

(2009) Ranjan Dohil et al.   JOURNAL OF PEDIATRICS

Therapeutic attenuation of mitochondrial dysfunction and oxidative stress in neurotoxin models of Parkinson's disease

(2008) Edward C. Stack et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Neurodegeneration associated with genetic defects in phospholipase A2

(2008) A. Gregory et al.   NEUROLOGY