Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms

Parkinson's disease-associated human ATP13A2 (PARK9) deficiency causes zinc dyshomeostasis and mitochondrial dysfunction

(2014) Jin-Sung Park et al.   HUMAN MOLECULAR GENETICS

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

(2014) Arcangela Iuso et al.   PLoS One

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

Targeting Chelatable Iron as a Therapeutic Modality in Parkinson's Disease

(2013) David Devos et al.   ANTIOXIDANTS & REDOX SIGNALING

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

Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

(2013) Susan J. Hayflick et al.   BRAIN

Pathophysiology and Treatment of Neurodegeneration With Brain Iron Accumulation in the Pediatric Population

(2013) Susanne A. Schneider et al.   Current Treatment Options in Neurology

Loss of iron triggers PINK1/Parkin-independent mitophagy

(2013) George F G Allen et al.   EMBO REPORTS

C19orf12 mutation leads to a pallido-pyramidal syndrome

(2013) Michael C. Kruer et al.   GENE

Atp13a2-deficient mice exhibit neuronal ceroid lipofuscinosis, limited α-synuclein accumulation and age-dependent sensorimotor deficits

(2013) Patrick J. Schultheis et al.   HUMAN MOLECULAR GENETICS

Zn2+ dyshomeostasis caused by loss of ATP13A2/PARK9 leads to lysosomal dysfunction and alpha-synuclein accumulation

(2013) Taiji Tsunemi et al.   HUMAN MOLECULAR GENETICS

Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation inC19orf12

(2013) Guida Landouré et al.   HUMAN MUTATION

Neurodegenerative disorder with brain iron accumulation previously known as SENDA syndrome now genetically determined

(2013) Petr Dusek et al.   MOVEMENT DISORDERS

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

(2013) Hirotomo Saitsu et al.   NATURE GENETICS

Iron metabolism in the CNS: implications for neurodegenerative diseases

(2013) Tracey A. Rouault   NATURE REVIEWS NEUROSCIENCE

A new in vivo model of pantothenate kinase-associated neurodegeneration reveals a surprising role for transcriptional regulation in pathogenesis

(2013) Pandey Varun et al.   Frontiers in Cellular Neuroscience

Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

(2012) Tobias B. Haack et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Ferroxidase Hephaestin's Cell-Autonomous Role in the Retinal Pigment Epithelium

(2012) Natalie Wolkow et al.   AMERICAN JOURNAL OF PATHOLOGY

Two forms of iron as an intrinsic contrast agent in the basal ganglia of PKAN patients

(2012) Monika Dezortova et al.   Contrast Media & Molecular Imaging

Aceruloplasminemia

(2012) Satoshi Kono   CURRENT DRUG TARGETS

Neurodegeneration with brain iron accumulation

(2012) Petr Dusek et al.   CURRENT OPINION IN NEUROLOGY

Biogenesis of iron-sulfur clusters in mammalian cells: new insights and relevance to human disease

(2012) T. A. Rouault   Disease Models & Mechanisms

A mutant light-chain ferritin that causes neurodegeneration has enhanced propensity toward oxidative damage

(2012) Martin A. Baraibar et al.   FREE RADICAL BIOLOGY AND MEDICINE

Severe disturbance in the Ca2+ signaling in astrocytes from mouse models of human infantile neuroaxonal dystrophy with mutated Pla2g6

(2012) M. Strokin et al.   HUMAN MOLECULAR GENETICS

Skin fibroblasts from pantothenate kinase-associated neurodegeneration patients show altered cellular oxidative status and have defective iron-handling properties

(2012) A. Campanella et al.   HUMAN MOLECULAR GENETICS

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

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

(2012) Jose Bras et al.   HUMAN MOLECULAR GENETICS

Loss of Cardiolipin Leads to Perturbation of Mitochondrial and Cellular Iron Homeostasis

(2012) Vinay A. Patil et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Deficiency of ATP13A2 Leads to Lysosomal Dysfunction,  -Synuclein Accumulation, and Neurotoxicity

(2012) M. Usenovic et al.   JOURNAL OF NEUROSCIENCE

De novoFTLmutation: A clinical, neuroimaging, and molecular study

(2012) Eugenia Storti et al.   MOVEMENT DISORDERS

ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome

(2012) Anne Grünewald et al.   NEUROBIOLOGY OF AGING

New NBIA subtype: Genetic, clinical, pathologic, and radiographic features of MPAN

(2012) P. Hogarth et al.   NEUROLOGY

Neuroferritinopathy

(2012) Alexander Lehn et al.   PARKINSONISM & RELATED DISORDERS

Cofilin/Twinstar Phosphorylation Levels Increase in Response to Impaired Coenzyme A Metabolism

(2012) Katarzyna Siudeja et al.   PLoS One

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

(2012) Matthew Garcia et al.   PLoS One

Compartmentalization of Mammalian Pantothenate Kinases

(2012) Adolfo Alfonso-Pecchio et al.   PLoS One

Loss of P-type ATPase ATP13A2/PARK9 function induces general lysosomal deficiency and leads to Parkinson disease neurodegeneration

(2012) B. Dehay et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

C19orf12 and FA2H Mutations Are Rare in Italian Patients With Neurodegeneration With Brain Iron Accumulation

(2012) Celeste Panteghini et al.   Seminars in Pediatric Neurology

Neurodegeneration With Brain Iron Accumulation: A Diagnostic Algorithm

(2012) Michael C. Kruer et al.   Seminars in Pediatric Neurology

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

Mitochondrial Mayhem: The Mitochondrion as a Modulator of Iron Metabolism and Its Role in Disease

(2011) Michael Li-Hsuan Huang et al.   ANTIOXIDANTS & REDOX SIGNALING

Non-transferrin bound iron: A key role in iron overload and iron toxicity

(2011) Pierre Brissot et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

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

(2011) M. C. Kruer et al.   BRAIN

Genetics of Neurodegeneration with Brain Iron Accumulation

(2011) Allison Gregory et al.   Current Neurology and Neuroscience Reports

The WD40 Repeat PtdIns(3)P-Binding Protein EPG-6 Regulates Progression of Omegasomes to Autophagosomes

(2011) Qun Lu et al.   DEVELOPMENTAL CELL

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

Central nervous system dysfunction in a mouse model of Fa2h deficiency

(2011) Kathleen A. Potter et al.   GLIA

A pilot trial of deferiprone for neurodegeneration with brain iron accumulation

(2011) G. Abbruzzese et al.   HAEMATOLOGICA

PARK9-associated ATP13A2 localizes to intracellular acidic vesicles and regulates cation homeostasis and neuronal integrity

(2011) David Ramonet et al.   HUMAN MOLECULAR GENETICS

Extensive brain pathology in a patient with aceruloplasminemia with a prolonged duration of illness

(2011) Kazuma Kaneko et al.   HUMAN PATHOLOGY

Criteria for Early Identification of Aceruloplasminemia

(2011) Masaro Ogimoto et al.   INTERNAL MEDICINE

Regulation of Intracellular Manganese Homeostasis by Kufor-Rakeb Syndrome-associated ATP13A2 Protein

(2011) Jieqiong Tan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Ceruloplasmin deficiency results in an anxiety phenotype involving deficits in hippocampal iron, serotonin, and BDNF

(2011) Sarah J. Texel et al.   JOURNAL OF NEUROCHEMISTRY

Neuroaxonal Dystrophy in Calcium-Independent Phospholipase A2  Deficiency Results from Insufficient Remodeling and Degeneration of Mitochondrial and Presynaptic Membranes

(2011) G. Beck et al.   JOURNAL OF NEUROSCIENCE

Iron Efflux from Oligodendrocytes Is Differentially Regulated in Gray and White Matter

(2011) K. Schulz et al.   JOURNAL OF NEUROSCIENCE

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

Long-term improvement under deferiprone in a case of neurodegeneration with brain iron accumulation

(2011) A. Kwiatkowski et al.   PARKINSONISM & RELATED DISORDERS

Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA)

(2010) Michael C. Kruer et al.   ANNALS OF NEUROLOGY

Cytosolic and mitochondrial ferritins in the regulation of cellular iron homeostasis and oxidative damage

(2010) Paolo Arosio et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Biological effects of mutant ceruloplasmin on hepcidin-mediated internalization of ferroportin

(2010) Satoshi Kono et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Iron loading-induced aggregation and reduction of iron incorporation in heteropolymeric ferritin containing a mutant light chain that causes neurodegeneration

(2010) Barry B. Muhoberac et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Characterization of the human PANK2 promoter

(2010) Brenda J. Polster et al.   GENE

Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35)

(2010) Katherine J. Dick et al.   HUMAN MUTATION

Mutant Ferritin L-chains That Cause Neurodegeneration Act in a Dominant-negative Manner to Reduce Ferritin Iron Incorporation

(2010) Sara Luscieti et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis

(2010) Danielle Crompton et al.   MOLECULAR GENETICS AND METABOLISM

Abnormal iron metabolism in fibroblasts from a patient with the neurodegenerative disease hereditary ferritinopathy

(2010) Ana G Barbeito et al.   Molecular Neurodegeneration

ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation

(2010) Susanne A. Schneider et al.   MOVEMENT DISORDERS

Network organization of the human autophagy system

(2010) Christian Behrends et al.   NATURE

Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations

(2010) Coro Paisán-Ruiz et al.   NEUROBIOLOGY OF AGING

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

(2010) Maura Poli et al.   NEUROBIOLOGY OF DISEASE

Accumulation of oxidative DNA damage in brain mitochondria in mouse model of hereditary ferritinopathy

(2010) Xiaoling Deng et al.   NEUROSCIENCE LETTERS

Catalytic Function of PLA2G6 Is Impaired by Mutations Associated with Infantile Neuroaxonal Dystrophy but Not Dystonia-Parkinsonism

(2010) Laura A. Engel 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

Targeting the correct HDAC(s) to treat cognitive disorders

(2010) André Fischer et al.   TRENDS IN PHARMACOLOGICAL SCIENCES

Establishment of an Improved Mouse Model for Infantile Neuroaxonal Dystrophy That Shows Early Disease Onset and Bears a Point Mutation in Pla2g6

(2009) Haruka Wada et al.   AMERICAN JOURNAL OF PATHOLOGY

Pantothenate kinase-associated neurodegeneration: insights from a Drosophila model

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

Unraveling of the E-helices and Disruption of 4-Fold Pores Are Associated with Iron Mishandling in a Mutant Ferritin Causing Neurodegeneration

(2009) Martin A. Baraibar et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Abnormal iron metabolism and oxidative stress in mice expressing a mutant form of the ferritin light polypeptide gene

(2009) Ana G. Barbeito et al.   JOURNAL OF NEUROCHEMISTRY

Age-dependent expression of hephaestin in the brain of ceruloplasmin-deficient mice

(2009) Rui Cui et al.   JOURNAL OF TRACE ELEMENTS IN MEDICINE AND BIOLOGY

A novel ferritin light chain gene mutation in a Japanese family with neuroferritinopathy: Description of clinical features and implications for genotype-phenotype correlations

(2009) Akatsuki Kubota et al.   MOVEMENT DISORDERS

Oxidative stress and cell death in cells expressing L-ferritin variants causing neuroferritinopathy

(2009) Anna Cozzi et al.   NEUROBIOLOGY OF DISEASE

Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia

(2008) Simon Edvardson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Disrupted Membrane Homeostasis and Accumulation of Ubiquitinated Proteins in a Mouse Model of Infantile Neuroaxonal Dystrophy Caused by PLA2G6 Mutations

(2008) Ibrahim Malik et al.   AMERICAN JOURNAL OF PATHOLOGY

Role of Ca2+-independent phospholipase A2 in cell growth and signaling

(2008) Shelley B. Hooks et al.   BIOCHEMICAL PHARMACOLOGY

Clinical features and natural history of neuroferritinopathy caused by the 458dupA FTL mutation

(2008) D. Devos et al.   BRAIN

Clinical study andPLA2G6mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy

(2008) Y. Wu et al.   EUROPEAN JOURNAL OF NEUROLOGY

Calcium-independent phospholipase A2 mediates proliferation of human promonocytic U937 cells

(2008) María A. Balboa et al.   FEBS Journal

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

Dominant Mutants of Ceruloplasmin Impair the Copper Loading Machinery in Aceruloplasminemia

(2008) Maria Carmela Bonaccorsi di Patti et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Iron-mediated Aggregation and a Localized Structural Change Characterize Ferritin from a Mutant Light Chain Polypeptide That Causes Neurodegeneration

(2008) Martin A. Baraibar et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Phospholipase A2structure/function, mechanism, and signaling

(2008) John E. Burke et al.   JOURNAL OF LIPID RESEARCH

The emerging role of group VI calcium-independent phospholipase A2in releasing docosahexaenoic acid from brain phospholipids: Fig. 1.

(2008) Joshua T. Green et al.   JOURNAL OF LIPID RESEARCH

Expression of a Mutant Form of the Ferritin Light Chain Gene Induces Neurodegeneration and Iron Overload in Transgenic Mice

(2008) R. Vidal et al.   JOURNAL OF NEUROSCIENCE

Neuroaxonal Dystrophy Caused by Group VIA Phospholipase A2 Deficiency in Mice: A Model of Human Neurodegenerative Disease

(2008) K. Shinzawa et al.   JOURNAL OF NEUROSCIENCE

Absence of 2-Hydroxylated Sphingolipids Is Compatible with Normal Neural Development But Causes Late-Onset Axon and Myelin Sheath Degeneration

(2008) I. Zoller et al.   JOURNAL OF NEUROSCIENCE

Regression of symptoms after selective iron chelation therapy in a case of neurodegeneration with brain iron accumulation

(2008) Gian Luca Forni et al.   MOVEMENT DISORDERS

NEUROFERRITINOPATHY IN A JAPANESE FAMILY WITH A DUPLICATION IN THE FERRITIN LIGHT CHAIN GENE

(2008) E. Ohta et al.   NEUROLOGY

T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation

(2008) A. McNeill et al.   NEUROLOGY

Neurodegeneration associated with genetic defects in phospholipase A2

(2008) A. Gregory et al.   NEUROLOGY

Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN)

(2008) M. A. Kurian et al.   NEUROLOGY

Redox active iron accumulation in aceruloplasminemia

(2008) Luis F. Gonzalez-Cuyar et al.   NEUROPATHOLOGY

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

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