Review: Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation: unifying theories

A Dynamic Interface between Vacuoles and Mitochondria in Yeast

(2014) Yael Elbaz-Alon et al.   DEVELOPMENTAL CELL

Cellular Metabolism Regulates Contact Sites between Vacuoles and Mitochondria

(2014) Carina Hönscher et al.   DEVELOPMENTAL CELL

Wilson Disease Protein ATP7B Utilizes Lysosomal Exocytosis to Maintain Copper Homeostasis

(2014) Elena V. Polishchuk et al.   DEVELOPMENTAL CELL

Autophagosome Biogenesis in Primary Neurons Follows an Ordered and Spatially Regulated Pathway

(2014) Sandra Maday et al.   DEVELOPMENTAL CELL

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

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

Regulation of Autophagy by Cytosolic Acetyl-Coenzyme A

(2014) Guillermo Mariño et al.   MOLECULAR CELL

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

(2014) Arcangela Iuso et al.   PLoS One

Transcellular degradation of axonal mitochondria

(2014) Chung-ha O. Davis et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

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

(2013) Susan J. Hayflick et al.   BRAIN

Iron and Copper in Mitochondrial Diseases

(2013) Wenjing Xu et al.   Cell Metabolism

Autophagy and human diseases

(2013) Peidu Jiang et al.   CELL RESEARCH

The Role of Lipids in the Control of Autophagy

(2013) Claudia Dall'Armi et al.   CURRENT BIOLOGY

C19orf12 mutation leads to a pallido-pyramidal syndrome

(2013) Michael C. Kruer et al.   GENE

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

Autophagosomes form at ER–mitochondria contact sites

(2013) Maho Hamasaki et al.   NATURE

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

Oral Treatment Targeting the Unfolded Protein Response Prevents Neurodegeneration and Clinical Disease in Prion-Infected Mice

(2013) J. A. Moreno et al.   Science Translational Medicine

Extensive aggregation of α-synuclein and tau in juvenile-onset neuroaxonal dystrophy: an autopsied individual with a novel mutation in the PLA2G6 gene-splicing site

(2013) Yuichi Riku et al.   Acta Neuropathologica Communications

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

Role of calcium-independent phospholipase A2β in human pancreatic islet β-cell apoptosis

(2012) Xiaoyong Lei et al.   AMERICAN JOURNAL OF PHYSIOLOGY-ENDOCRINOLOGY AND METABOLISM

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

C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis

(2012) M. Deschauer et al.   JOURNAL OF NEUROLOGY

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

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

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

(2012) Anne Grünewald et al.   NEUROBIOLOGY OF AGING

Neuroferritinopathy: a new inborn error of iron metabolism

(2012) Michael J. Keogh et al.   NEUROGENETICS

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

(2012) P. Hogarth et al.   NEUROLOGY

Pantothenate kinase-associated neurodegeneration is not a synucleinopathy

(2012) A. Li et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

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

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

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

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

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

The role of lysosomes in iron metabolism and recycling

(2011) Tino Kurz et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

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

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

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

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

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

Syndromes of neurodegeneration with brain iron accumulation (NBIA): An update on clinical presentations, histological and genetic underpinnings, and treatment considerations

(2011) Susanne A. Schneider 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

Ferritin as an important player in neurodegeneration

(2011) Andrzej Friedman et al.   PARKINSONISM & RELATED DISORDERS

Identification of Critical Residues of the Mycobacterial Dephosphocoenzyme A Kinase by Site-Directed Mutagenesis

(2011) Guneet Walia et al.   PLoS One

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

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

Evidence for proteolytic processing and stimulated organelle redistribution of iPLA2β

(2010) Haowei Song et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Mitophagy and Parkinson's disease: The PINK1–parkin link

(2010) Emma Deas et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Mitochondria Supply Membranes for Autophagosome Biogenesis during Starvation

(2010) Dale W. Hailey et al.   CELL

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

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

Unconventional secretion of Acb1 is mediated by autophagosomes

(2010) Juan M. Duran et al.   JOURNAL OF CELL BIOLOGY

Unconventional secretion ofPichia pastorisAcb1 is dependent on GRASP protein, peroxisomal functions, and autophagosome formation

(2010) Ravi Manjithaya et al.   JOURNAL OF CELL BIOLOGY

ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation

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

The origin of the autophagosomal membrane

(2010) Sharon A. Tooze et al.   NATURE CELL BIOLOGY

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

Layer-specific variation of iron content in cerebral cortex as a source of MRI contrast

(2010) Masaki Fukunaga et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Lipid Oxidation and Peroxidation in CNS Health and Disease: From Molecular Mechanisms to Therapeutic Opportunities

(2009) Rao Muralikrishna Adibhatla et al.   ANTIOXIDANTS & REDOX SIGNALING

Cd2+, Mn2+, Ni2+ and Se2+ toxicity to Saccharomyces cerevisiae lacking YPK9p the orthologue of human ATP13A2

(2009) Karyn Schmidt et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

CoA Synthase is in complex with p85αPI3K and affects PI3K signaling pathway

(2009) Oksana Breus et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Fatty acid 2-Hydroxylation in mammalian sphingolipid biology

(2009) Hiroko Hama   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Pantothenate kinase-associated neurodegeneration: insights from a Drosophila model

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

Mitochondrial dynamics-fusion, fission, movement, and mitophagy-in neurodegenerative diseases

(2009) H. Chen et al.   HUMAN MOLECULAR GENETICS

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

Ceramide and neurodegeneration: Susceptibility of neurons and oligodendrocytes to cell damage and death

(2009) Arundhati Jana et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

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

α-Synuclein is part of a diverse and highly conserved interaction network that includes PARK9 and manganese toxicity

(2009) Aaron D Gitler et al.   NATURE GENETICS

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

(2009) Anna Cozzi et al.   NEUROBIOLOGY OF DISEASE

Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome

(2008) Anas M. Alazami et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Alopecia, Neurological Defects, and Endocrinopathy Syndrome Caused by Decreased Expression of RBM28, a Nucleolar Protein Associated with Ribosome Biogenesis

(2008) Janna Nousbeck et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Characterization of PLA2G6 as a locus for dystonia-parkinsonism

(2008) Coro Paisan-Ruiz et al.   ANNALS OF NEUROLOGY

Oxidative Stress and Autophagy in the Regulation of Lysosome-Dependent Neuron Death

(2008) Violetta N. Pivtoraiko et al.   ANTIOXIDANTS & REDOX SIGNALING

Active Caspase-1 Is a Regulator of Unconventional Protein Secretion

(2008) Martin Keller et al.   CELL

Emerging pathways in genetic Parkinson's disease: Potential role of ceramide metabolism in Lewy body disease

(2008) Jose Bras 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

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

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

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

Redox active iron accumulation in aceruloplasminemia

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