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

New mutation of the ceruloplasmin gene in the case of a neurologically asymptomatic patient with microcytic anaemia, obesity and supposed Wilson’s disease

(2020) Mária Ondrejkovičová et al.   BMC GASTROENTEROLOGY

The natural history of infantile neuroaxonal dystrophy

(2020) Fadie D. Altuame et al.   Orphanet Journal of Rare Diseases

Effects of iron chelation therapy on the clinical course of aceruloplasminemia: an analysis of aggregated case reports

(2020) Lena H. P. Vroegindeweij et al.   Orphanet Journal of Rare Diseases

Antisense oligonucleotides for neurodegeneration

(2020) Blair R. Leavitt et al.   SCIENCE

Deferasirox Might Be Effective for Microcytic Anemia and Neurological Symptoms Associated with Aceruloplasminemia: A Case Report and Review of the Literature

(2020) Zenshi Miyake et al.   INTERNAL MEDICINE

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

Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase–Associated Neurodegeneration

(2020) Thomas Klopstock et al.   MOVEMENT DISORDERS

The FOsmetpantotenate Replacement Therapy (FORT) Randomized, Double-Blind, Placebo-Controlled Pivotal Trial: Study Design and Development Methodology of a Novel Primary Efficacy Outcome in Patients With Pantothenate Kinase-Associated Neurodegeneration

(2019) Thomas Klopstock et al.   Clinical Trials

Nusinersen in later-onset spinal muscular atrophy

(2019) Basil T. Darras et al.   NEUROLOGY

Deuterated Polyunsaturated Fatty Acids Reduce Oxidative Stress and Extend the Lifespan of C. elegans

(2019) Caroline Beaudoin-Chabot et al.   Frontiers in Physiology

WDR45 contributes to neurodegeneration through regulation of ER homeostasis and neuronal death

(2019) Huida Wan et al.   Autophagy

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

Parkinson’s disease-associated iPLA2-VIA/PLA2G6 regulates neuronal functions and α-synuclein stability through membrane remodeling

(2019) Akio Mori et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

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

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

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

Peripheral Neuropathy and the Ceruloplasmin Gene

(2018) Marc C. Hines et al.   ANNALS OF INTERNAL MEDICINE

Phospholipase PLA2G6, a Parkinsonism-Associated Gene, Affects Vps26 and Vps35, Retromer Function, and Ceramide Levels, Similar to α-Synuclein Gain

(2018) Guang Lin et al.   Cell Metabolism

The Anti-malarial Drug Artesunate Blocks Wnt/β-catenin Pathway and Inhibits Growth, Migration and Invasion of Uveal Melanoma Cells

(2018) Lei Zheng et al.   CURRENT CANCER DRUG TARGETS

A Aceruloplasminemia Patient with Abnormal Compound Heterozygous Mutations Who Developed Neurological Dysfunction during Phlebotomy Therapy: A Case Report

(2018) Maki Watanabe et al.   INTERNAL MEDICINE

Artesunate shows potent anti-tumor activity in B-cell lymphoma

(2018) Thea Kristin Våtsveen et al.   Journal of Hematology & Oncology

Randomized, clinical trial of RT001: Early signals of efficacy in Friedreich's ataxia

(2018) Theresa Zesiewicz et al.   MOVEMENT DISORDERS

Phenotypic heterogeneity in seven Italian cases of aceruloplasminemia

(2018) Sara Pelucchi et al.   PARKINSONISM & RELATED DISORDERS

Aceruloplasminemia and putaminal cavitation

(2018) Giulietta Maria Riboldi et al.   PARKINSONISM & RELATED DISORDERS

Fosmetpantotenate (RE-024), a phosphopantothenate replacement therapy for pantothenate kinase-associated neurodegeneration: Mechanism of action and efficacy in nonclinical models

(2018) Daniel Elbaum et al.   PLoS One

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

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

Recommendations for the design of small population clinical trials

(2018) Simon Day et al.   Orphanet Journal of Rare Diseases

A therapeutic approach to pantothenate kinase associated neurodegeneration

(2018) Lalit Kumar Sharma et al.   Nature Communications

PLA2G6-Associated Neurodegeneration (PLAN): Review of Clinical Phenotypes and Genotypes

(2018) Yu-pei Guo et al.   Frontiers in Neurology

Aceruloplasminaemia: a disorder of diabetes and neurodegeneration

(2017) Genevieve L. Calder et al.   INTERNAL MEDICINE JOURNAL

The elemental role of iron in DNA synthesis and repair

(2017) Sergi Puig et al.   Metallomics

New insights in the neurological phenotype of aceruloplasminemia in Caucasian patients

(2017) Lena H.P. Vroegindeweij et al.   PARKINSONISM & RELATED DISORDERS

Patient Affected by Beta-Propeller Protein-Associated Neurodegeneration: A Therapeutic Attempt with Iron Chelation Therapy

(2017) Mattia Fonderico et al.   Frontiers in Neurology

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

(2017) Ivano Di Meo et al.   Scientific Reports

Does aceruloplasminemia modulate iron phenotype in thalassemia intermedia?

(2016) Sara Pelucchi et al.   BLOOD CELLS MOLECULES AND DISEASES

Mitochondria-associated ER membranes and Alzheimer disease

(2016) Estela Area-Gomez et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

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

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

An overview of rapamycin: from discovery to future perspectives

(2016) Young Ji Yoo et al.   JOURNAL OF INDUSTRIAL MICROBIOLOGY & BIOTECHNOLOGY

Iron chelation in the treatment of neurodegenerative diseases

(2016) Petr Dusek et al.   JOURNAL OF TRACE ELEMENTS IN MEDICINE AND BIOLOGY

Rapamycin: An InhibiTOR of Aging Emerges From the Soil of Easter Island

(2016) Sebastian I. Arriola Apelo et al.   JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES

Aceruloplasminemia With Psychomotor Excitement and Neurological Sign Was Improved by Minocycline (Case Report)

(2016) Maiko Hayashida et al.   MEDICINE

Clinical and imaging characteristics of late onset mitochondrial membrane protein-associated neurodegeneration (MPAN)

(2016) Ethan Gore et al.   NEUROCASE

Is aceruloplasminemia treatable? Combining iron chelation and fresh-frozen plasma treatment

(2016) L. Poli et al.   NEUROLOGICAL SCIENCES

The autophagy geneWdr45/Wipi4regulates learning and memory function and axonal homeostasis

(2015) Yan G Zhao et al.   Autophagy

Combination-therapy with concurrent deferoxamine and deferiprone is effective in treating resistant cardiac iron-loading in aceruloplasminaemia

(2015) Mohsin Badat et al.   BRITISH JOURNAL OF HAEMATOLOGY

Aceruloplasminemia presents as Type 1 diabetes in non-obese adults: a detailed case series

(2015) L. H. P. Vroegindeweij et al.   DIABETIC MEDICINE

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

(2015) Balaji Srinivasan et al.   Nature Chemical Biology

Iron chelation therapy to prevent the manifestations of aceruloplasminemia

(2015) Francesco Bove et al.   NEUROLOGY

Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca2+

(2015) Paola Venco et al.   Frontiers in Genetics

Neuropathology of Beta-propeller protein associated neurodegeneration (BPAN): a new tauopathy

(2015) R. Paudel et al.   Acta Neuropathologica Communications

Aceruloplasminaemia: A Family with a Novel Mutation and Long-Term Therapy with Deferasirox

(2014) U. Lindner et al.   HORMONE AND METABOLIC RESEARCH

Superficial siderosis associated with aceruloplasminemia. Case report

(2014) Akira Matsushima et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

The role of iron in brain ageing and neurodegenerative disorders

(2014) Roberta J Ward et al.   LANCET NEUROLOGY

Poster Presentations

(2014)   MOVEMENT DISORDERS

Efficacy and safety of deferiprone for the treatment of pantothenate kinase-associated neurodegeneration (PKAN) and neurodegeneration with brain iron accumulation (NBIA): Results from a four years follow-up

(2014) Giovanni Cossu et al.   PARKINSONISM & RELATED DISORDERS

Impairment of Drosophila Orthologs of the Human Orphan Protein C19orf12 Induces Bang Sensitivity and Neurodegeneration

(2014) Arcangela Iuso et al.   PLoS One

Brain iron quantification by MRI in mitochondrial membrane protein-associated neurodegeneration under iron-chelating therapy

(2014) Ulrike Löbel et al.   Annals of Clinical and Translational Neurology

An Overview of Autophagy: Morphology, Mechanism, and Regulation

(2013) Katherine R. Parzych et al.   ANTIOXIDANTS & REDOX SIGNALING

The endoplasmic reticulum–mitochondria connection: One touch, multiple functions

(2013) Saverio Marchi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

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

Novel ceruloplasmin mutation causing aceruloplasminemia with hepatic iron overload and diabetes without neurological symptoms

(2013) M. Rusticeanu et al.   CLINICAL GENETICS

Case of presymptomatic aceruloplasminemia treated with deferasirox

(2013) Mayumi Tai et al.   HEPATOLOGY RESEARCH

Effectiveness of Oral Iron Chelator Treatment with Deferasirox in an Aceruloplasminemia Patient with a Novel Ceruloplasmin Gene Mutation

(2013) Yasuhiro Suzuki et al.   INTERNAL MEDICINE

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

(2013) Hirotomo Saitsu et al.   NATURE GENETICS

Impaired Iron Status in Aging Research

(2012) Jinze Xu et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Dihydroartemisinin Exerts Its Anticancer Activity through Depleting Cellular Iron via Transferrin Receptor-1

(2012) Qian Ba et al.   PLoS One

Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation

(2011) Monika B. Hartig et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Criteria for Early Identification of Aceruloplasminemia

(2011) Masaro Ogimoto et al.   INTERNAL MEDICINE

Pantethine Rescues Phosphopantothenoylcysteine Synthetase and Phosphopantothenoylcysteine Decarboxylase Deficiency in Escherichia coli but Not in Pseudomonas aeruginosa

(2011) C. J. Balibar et al.   JOURNAL OF BACTERIOLOGY

The role of metallobiology and amyloid-β peptides in Alzheimer’s disease

(2011) Blaine R. Roberts et al.   JOURNAL OF NEUROCHEMISTRY

Desferrioxamine treatment of aceruloplasminemia: Long-term follow-up

(2011) Ping-Lei Pan et al.   MOVEMENT DISORDERS

Iron-related MRI images in patients with pantothenate kinase-associated neurodegeneration (PKAN) treated with deferiprone: Results of a phase II pilot trial

(2011) Giovanna Zorzi et al.   MOVEMENT DISORDERS

AMPK and mTOR regulate autophagy through direct phosphorylation of Ulk1

(2011) Joungmok Kim et al.   NATURE CELL BIOLOGY

Fighting neurodegeneration with rapamycin: mechanistic insights

(2011) Jordi Bové et al.   NATURE REVIEWS NEUROSCIENCE

The anti-cancer activity of dihydroartemisinin is associated with induction of iron-dependent endoplasmic reticulum stress in colorectal carcinoma HCT116 cells

(2010) Jin-Jian Lu et al.   INVESTIGATIONAL NEW DRUGS

Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation

(2010) Armin Finkenstedt et al.   JOURNAL OF HEPATOLOGY

Aceruloplasminemia in a Japanese woman with a novel mutation of CP gene: Clinical presentations and analysis of genetic and molecular pathogenesis

(2010) Ayumi Hida et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

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

Phospholipase A2 Biochemistry

(2008) John E. Burke et al.   CARDIOVASCULAR DRUGS AND THERAPY

Aceruloplasminemia: A novel mutation in a family with marked phenotypic variability

(2008) Alfonso Fasano et al.   MOVEMENT DISORDERS

Neurodegeneration associated with genetic defects in phospholipase A2

(2008) A. Gregory et al.   NEUROLOGY

Aceruloplasminaemia with progressive atrophy without brain iron overload: treatment with oral chelation

(2007) F M Skidmore et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY