X‐linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies

Exogenous Addition of 25-Hydroxycholesterol Reduces Level of Very Long-Chain Fatty Acids in X-Linked Adrenoleukodystrophy

(2019) Jiho Jang et al.   ChemistryOpen

Disease progression in women with X-linked adrenoleukodystrophy is slow

(2019) Irene C. Huffnagel et al.   Orphanet Journal of Rare Diseases

MRI brain lesions in asymptomatic boys with X-linked adrenoleukodystrophy

(2019) Afonso P. Liberato et al.   NEUROLOGY

CRISPR/Cas9-mediated knockout of Abcd1 and Abcd2 genes in BV-2 cells: novel microglial models for X-linked Adrenoleukodystrophy

(2019) Q. Raas et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Cholesterol transport through the peroxisome-ER membrane contacts tethered by PI(4,5)P2 and extended synaptotagmins

(2019) Jian Xiao et al.   Science China-Life Sciences

Lipid droplets induced by secreted phospholipase A 2 and unsaturated fatty acids protect breast cancer cells from nutrient and lipotoxic stress

(2018) Eva Jarc et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Impaired plasticity of macrophages in X-linked adrenoleukodystrophy

(2018) Isabelle Weinhofer et al.   BRAIN

Etiology and treatment of adrenoleukodystrophy: new insights from Drosophila

(2018) Hannah B. Gordon et al.   Disease Models & Mechanisms

PIP4K2A regulates intracellular cholesterol transport through modulating PI(4,5)P2homeostasis

(2018) Ao Hu et al.   JOURNAL OF LIPID RESEARCH

Dendrimer-N-acetyl-L-cysteine modulates monophagocytic response in adrenoleukodystrophy

(2018) Bela R. Turk et al.   ANNALS OF NEUROLOGY

The peroxisome: an update on mysteries 2.0

(2018) Markus Islinger et al.   HISTOCHEMISTRY AND CELL BIOLOGY

The natural history of adrenal insufficiency in X-linked adrenoleukodystrophy: an international collaboration

(2018) Irene C Huffnagel et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Integrative lipidomic and transcriptomic analysis of X-linked adrenoleukodystrophy reveals distinct lipidome signatures between adrenomyeloneuropathy and childhood cerebral adrenoleukodystrophy

(2018) Dong-Kyu Lee et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Survival and Functional Outcomes in Boys with Cerebral Adrenoleukodystrophy with and without Hematopoietic Stem Cell Transplantation

(2018) Gerald V. Raymond et al.   BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION

Progression of myelopathy in males with adrenoleukodystrophy: towards clinical trial readiness

(2018) Irene C Huffnagel et al.   BRAIN

Oxidative Imbalance, Nitrative Stress, and Inflammation in C6 Glial Cells Exposed to Hexacosanoic Acid: Protective Effect of N-acetyl-l-cysteine, Trolox, and Rosuvastatin

(2018) Desirèe Padilha Marchetti et al.   CELLULAR AND MOLECULAR NEUROBIOLOGY

Adrenoleukodystrophy: Guidance for Adrenal Surveillance in Males Identified by Newborn Screen

(2018) Molly O Regelmann et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Intracellular Cholesterol Transport by Sterol Transfer Proteins at Membrane Contact Sites

(2018) Jie Luo et al.   TRENDS IN BIOCHEMICAL SCIENCES

A Thyroid Hormone–Based Strategy for Correcting the Biochemical Abnormality in X-Linked Adrenoleukodystrophy

(2017) Meredith D. Hartley et al.   ENDOCRINOLOGY

A zebrafish model of X-linked adrenoleukodystrophy recapitulates key disease features and demonstrates a developmental requirement for abcd1 in oligodendrocyte patterning and myelination

(2017) Lauren R. Strachan et al.   HUMAN MOLECULAR GENETICS

7-Ketocholesterol is increased in the plasma of X-ALD patients and induces peroxisomal modifications in microglial cells: Potential roles of 7-ketocholesterol in the pathophysiology of X-ALD

(2017) Thomas Nury et al.   JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY

Comparison of C26:0-carnitine and C26:0-lysophosphatidylcholine as diagnostic markers in dried blood spots from newborns and patients with adrenoleukodystrophy

(2017) Irene C. Huffnagel et al.   MOLECULAR GENETICS AND METABOLISM

Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy

(2017) Florian Eichler et al.   NEW ENGLAND JOURNAL OF MEDICINE

Peroxisomal dysfunctions cause lysosomal storage and axonal Kv1 channel redistribution in peripheral neuropathy

(2017) Sandra Kleinecke et al.   eLife

Antioxidant Capacity and Superoxide Dismutase Activity in Adrenoleukodystrophy

(2017) Bela R. Turk et al.   JAMA Neurology

Tauroursodeoxycholic bile acid arrests axonal degeneration by inhibiting the unfolded protein response in X-linked adrenoleukodystrophy

(2016) Nathalie Launay et al.   ACTA NEUROPATHOLOGICA

CYP4F2 affects phenotypic outcome in adrenoleukodystrophy by modulating the clearance of very long-chain fatty acids

(2016) Catherine E. van Engen et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Endocrine Dysfunction in X-Linked Adrenoleukodystrophy

(2016) Elizabeth Burtman et al.   ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA

Effects of bile acids on neurological function and disease

(2016) Matthew McMillin et al.   FASEB JOURNAL

Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation

(2016) Alex R. Kemper et al.   GENETICS IN MEDICINE

MicroRNA Profiling Identifies miR-196a as Differentially Expressed in Childhood Adrenoleukodystrophy and Adult Adrenomyeloneuropathy

(2016) Navjot Shah et al.   MOLECULAR NEUROBIOLOGY

Adrenoleukodystrophy – neuroendocrine pathogenesis and redefinition of natural history

(2016) Stephan Kemp et al.   Nature Reviews Endocrinology

25-hydroxycholesterol contributes to cerebral inflammation of X-linked adrenoleukodystrophy through activation of the NLRP3 inflammasome

(2016) Jiho Jang et al.   Nature Communications

C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man

(2016) Malu-Clair van de Beek et al.   PLoS One

Astrocytes and mitochondria from adrenoleukodystrophy protein (ABCD1)-deficient mice reveal that the adrenoleukodystrophy-associated very long-chain fatty acids target several cellular energy-dependent functions

(2015) Nicol Kruska et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Brain endothelial dysfunction in cerebral adrenoleukodystrophy

(2015) Patricia L. Musolino et al.   BRAIN

Cerebral adrenoleukodystrophy: a demyelinating disease that leaves the door wide open: Figure 1

(2015) Patrick Aubourg   BRAIN

A Review of Neuroimaging Findings in Repetitive Brain Trauma

(2015) Inga K. Koerte et al.   BRAIN PATHOLOGY

Close Encounters of the Lysosome-Peroxisome Kind

(2015) Yui Jin et al.   CELL

Cholesterol Transport through Lysosome-Peroxisome Membrane Contacts

(2015) Bei-Bei Chu et al.   CELL

Protective effect of antioxidants on DNA damage in leukocytes from X-linked adrenoleukodystrophy patients

(2015) Desirèe P. Marchetti et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE

Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy

(2015) Coleman T. Turgeon et al.   MOLECULAR GENETICS AND METABOLISM

Adenoassociated Virus Serotype 9-Mediated Gene Therapy for X-Linked Adrenoleukodystrophy

(2015) Yi Gong et al.   MOLECULAR THERAPY

X-linked adrenoleukodystrophy in women: a cross-sectional cohort study

(2014) Marc Engelen et al.   BRAIN

Effects of a Disrupted Blood-Brain Barrier on Cholesterol Homeostasis in the Brain

(2014) Ahmed A. Saeed et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Lorenzo's oil inhibits ELOVL1 and lowers the level of sphingomyelin with a saturated very long-chain fatty acid

(2014) Takayuki Sassa et al.   JOURNAL OF LIPID RESEARCH

Druggable sensors of the unfolded protein response

(2014) Dustin J Maly et al.   Nature Chemical Biology

Peroxisome Formation and Maintenance Are Dependent on the Endoplasmic Reticulum

(2013) Henk F. Tabak et al.   Annual Review of Biochemistry

Mitochondrial dysfunction and oxidative damage cooperatively fuel axonal degeneration in X-linked adrenoleukodystrophy

(2013) Stéphane Fourcade et al.   BIOCHIMIE

Pathophysiology of X-linked adrenoleukodystrophy

(2013) J. Berger et al.   BIOCHIMIE

Metabolic functions of peroxisomes in health and disease

(2013) Ronald J.A. Wanders   BIOCHIMIE

Pioglitazone halts axonal degeneration in a mouse model of X-linked adrenoleukodystrophy

(2013) Laia Morató et al.   BRAIN

Impaired Very Long-chain Acyl-CoA β-Oxidation in Human X-linked Adrenoleukodystrophy Fibroblasts Is a Direct Consequence of ABCD1 Transporter Dysfunction

(2013) Christoph Wiesinger et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Newborn screening for X-linked adrenoleukodystrophy: Further evidence high throughput screening is feasible

(2013) Christiane Theda et al.   MOLECULAR GENETICS AND METABOLISM

X-linked adrenoleukodystrophy: Clinical, metabolic, genetic and pathophysiological aspects

(2012) Stephan Kemp et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Hypoperfusion predicts lesion progression in cerebral X-linked adrenoleukodystrophy

(2012) P. L. Musolino et al.   BRAIN

Improved analysis of C26:0-lysophosphatidylcholine in dried-blood spots via negative ion mode HPLC-ESI-MS/MS for X-linked adrenoleukodystrophy newborn screening

(2012) Christopher A. Haynes et al.   CLINICA CHIMICA ACTA

Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation

(2012) Marc Engelen et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Bezafibrate for X-Linked Adrenoleukodystrophy

(2012) Marc Engelen et al.   PLoS One

Dendrimer-Based Postnatal Therapy for Neuroinflammation and Cerebral Palsy in a Rabbit Model

(2012) S. Kannan et al.   Science Translational Medicine

Antioxidants halt axonal degeneration in a mouse model of X-adrenoleukodystrophy

(2011) Jone López-Erauskin et al.   ANNALS OF NEUROLOGY

Outcomes after allogeneic hematopoietic cell transplantation for childhood cerebral adrenoleukodystrophy: the largest single-institution cohort report

(2011) W. P. Miller et al.   BLOOD

Mammalian peroxisomal ABC transporters: from endogenous substrates to pathology and clinical significance

(2011) Stephan Kemp et al.   BRITISH JOURNAL OF PHARMACOLOGY

Cholesterol metabolism in neurons and astrocytes

(2011) Frank W. Pfrieger et al.   PROGRESS IN LIPID RESEARCH

Pathomechanisms Underlying X-Adrenoleukodystrophy: A Three-Hit Hypothesis

(2010) Inderjit Singh et al.   BRAIN PATHOLOGY

Biochemical Aspects of X-Linked Adrenoleukodystrophy

(2010) Stephan Kemp et al.   BRAIN PATHOLOGY

The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy

(2010) Rob Ofman et al.   EMBO Molecular Medicine

Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy

(2010) Stéphane Fourcade et al.   HUMAN MOLECULAR GENETICS

Editorial: 25-Hydroxycholesterol: a new life in immunology

(2010) Jeffrey G. McDonald et al.   JOURNAL OF LEUKOCYTE BIOLOGY

Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes

(2010) Takashi Matsukawa et al.   NEUROGENETICS

Lovastatin in X-Linked Adrenoleukodystrophy

(2010) Marc Engelen et al.   NEW ENGLAND JOURNAL OF MEDICINE

ACAT1 gene ablation increases 24(S)-hydroxycholesterol content in the brain and ameliorates amyloid pathology in mice with AD

(2010) E. Y. Bryleva et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

ELOVL1 production of C24 acyl-CoAs is linked to C24 sphingolipid synthesis

(2010) Y. Ohno et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Central nervous system: cholesterol turnover, brain development and neurodegeneration

(2009) John M. Dietschy   BIOLOGICAL CHEMISTRY

Head trauma can initiate the onset of adreno-leukodystrophy

(2009) Gerald V. Raymond et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Newborn screening for X-linked adrenoleukodystrophy (X-ALD): Validation of a combined liquid chromatography–tandem mass spectrometric (LC–MS/MS) method

(2009) Walter C. Hubbard et al.   MOLECULAR GENETICS AND METABOLISM

Hematopoietic Stem Cell Gene Therapy with a Lentiviral Vector in X-Linked Adrenoleukodystrophy

(2009) N. Cartier et al.   SCIENCE

Plasmalogens participate in very-long-chain fatty acid-induced pathology

(2008) P. Brites et al.   BRAIN

Toxic effects of X-linked adrenoleukodystrophy-associated, very long chain fatty acids on glial cells and neurons from rat hippocampus in culture

(2008) S. Hein et al.   HUMAN MOLECULAR GENETICS

Early oxidative damage underlying neurodegeneration in X-adrenoleukodystrophy

(2008) S. Fourcade et al.   HUMAN MOLECULAR GENETICS

Plasmalogen deficiency in cerebral adrenoleukodystrophy and its modulation by lovastatin

(2008) Mushfiquddin Khan et al.   JOURNAL OF NEUROCHEMISTRY