Brain iron accumulation affects myelin-related molecular systems implicated in a rare neurogenetic disease family with neuropsychiatric features

Neurodegeneration with Brain Iron Accumulation: Genetic Diversity and Pathophysiological Mechanisms

(2015) Esther Meyer et al.   Annual Review of Genomics and Human Genetics

The Parkinson-associated human P5B-ATPase ATP13A2 protects against the iron-induced cytotoxicity

(2015) Débora E. Rinaldi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

Molecular regulators of nerve conduction — Lessons from inherited neuropathies and rodent genetic models

(2015) Jun Li   EXPERIMENTAL NEUROLOGY

Early manifestations of BPAN in a pediatric patient

(2014) Nobuhiko Okamoto et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Repeated Mild Traumatic Brain Injury Results in Long-Term White-Matter Disruption

(2014) Virginia Donovan et al.   JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM

Adult Neural Precursor Cells from the Subventricular Zone Contribute Significantly to Oligodendrocyte Regeneration and Remyelination

(2014) Y. L. Xing et al.   JOURNAL OF NEUROSCIENCE

The role of iron in brain ageing and neurodegenerative disorders

(2014) Roberta J Ward et al.   LANCET NEUROLOGY

PLA2G6-associated neurodegeneration (PLAN): Further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease

(2014) M.A. Illingworth et al.   MOLECULAR GENETICS AND METABOLISM

Novel mutation of theWDR45gene causing beta-propeller protein-associated neurodegeneration

(2014) Geetanjali S. Rathore et al.   MOVEMENT DISORDERS

Glial Cell Ceruloplasmin and Hepcidin Differentially Regulate Iron Efflux from Brain Microvascular Endothelial Cells

(2014) Ryan C. McCarthy et al.   PLoS One

Cellular function and pathological role of ATP13A2 and related P-type transport ATPases in Parkinson's disease and other neurological disorders

(2014) Sarah van Veen et al.   Frontiers in Molecular Neuroscience

A mutation in the HFE gene is associated with altered brain iron profiles and increased oxidative stress in mice

(2013) Wint Nandar et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Brain iron takes off: a new propeller protein links neurodegeneration with autophagy

(2013) Rita Horvath   BRAIN

MRI measures of corpus callosum iron and myelin in early Huntington's disease

(2013) M. Di Paola et al.   HUMAN BRAIN MAPPING

Brain transcriptome perturbations in the transferrin receptor 2 mutant mouse support the case for brain changes in iron loading disorders, including effects relating to long-term depression and long-term potentiation

(2013) B. Acikyol et al.   NEUROSCIENCE

Role of myelin plasticity in oscillations and synchrony of neuronal activity

(2013) S. Pajevic et al.   NEUROSCIENCE

Non-protein-bound iron and 4-hydroxynonenal protein adducts in classic autism

(2012) Alessandra Pecorelli et al.   BRAIN & DEVELOPMENT

Brain transcriptome perturbations in the Hfe−/− mouse model of genetic iron loading

(2012) Daniel Johnstone et al.   BRAIN RESEARCH

Mutations in the HFE, TFR2, and SLC40A1 genes in patients with hemochromatosis

(2012) Alejandro del-Castillo-Rueda et al.   GENE

Disruption of hemochromatosis protein and transferrin receptor 2 causes iron-induced liver injury in mice

(2012) Roheeth D. Delima et al.   HEPATOLOGY

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

Iron dysregulation in movement disorders

(2012) Petr Dusek et al.   NEUROBIOLOGY OF DISEASE

Iron Status in Children With Autism Spectrum Disorder

(2012) Ann Reynolds et al.   PEDIATRICS

Mutations in HFE and TFR2 genes in a Spanish patient with hemochromatosis

(2012) Alejandro del-Castillo-Rueda et al.   REVISTA ESPANOLA DE ENFERMEDADES DIGESTIVAS

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

Phenotypic heterogeneity in Woodhouse-Sakati syndrome: Two new families with a mutation in the C2orf37 gene

(2011) Tawfeg Ben-Omran et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Neuroimaging Features of Neurodegeneration with Brain Iron Accumulation

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

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

(2011) M. C. Kruer et al.   BRAIN

Iron sensing and signalling

(2011) Rayko Evstatiev et al.   GUT

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

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

C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients

(2010) AM Alazami et al.   CLINICAL GENETICS

Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations

(2010) Coro Paisán-Ruiz et al.   MOVEMENT DISORDERS

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

Genome-wide microarray analysis of brain gene expression in mice on a short-term high iron diet

(2010) Daniel Johnstone et al.   NEUROCHEMISTRY INTERNATIONAL

In silico QTL mapping of basal liver iron levels in inbred mouse strains

(2010) Stela McLachlan et al.   PHYSIOLOGICAL GENOMICS

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

Fatty acid 2-Hydroxylation in mammalian sphingolipid biology

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

A comparison of learning and memory characteristics of young and middle-aged wild-type mice in the IntelliCage

(2009) Annis O. Mechan et al.   JOURNAL OF NEUROSCIENCE METHODS

AQP4 gene deletion in mice does not alter blood–brain barrier integrity or brain morphology

(2009) S. Saadoun et al.   NEUROSCIENCE

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

Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genes

(2008) Ana Isabel Mendes et al.   ANNALS OF HEMATOLOGY

Characterization of PLA2G6 as a locus for dystonia-parkinsonism

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

Oligodendrocytes and myelination: The role of iron

(2008) Bozho Todorich et al.   GLIA

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