Leukodystrophies: recent developments in genetics, molecular biology, pathogenesis and treatment*

No abstract is available for this paper.

• Publication year

  2001

• Venue

  Current Opinion in Neurology

• Publication date

  2001-06-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1097/00019052-200106000-00007PMID 11371752
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Pelizaeus-merzbacher disease.

  2019cited by this paper
• Evolution of phenotypes in adult male patients with X‐linked adrenoleukodystrophy

  2001cited by this paper
• Genomic approaches to elucidation of the Fhit pathway in worms and yeast: Rosetta Stone and synthetic lethals

  2001cited by this paper
• Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease

  2001cited by this paper
• Simvastatin does not normalize very long chain fatty acids in adrenoleukodystrophy mice

  2000cited by this paper
• Lovastatin does not correct the accumulation of very long-chain fatty acids in tissues of adrenoleukodystrophy protein-deficient mice

  2000cited by this paper
• Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31.

  2000cited by this paper
• Retrovirally expressed human arylsulfatase A corrects the metabolic defect of arylsulfatase A-deficient mouse cells

  2000cited by this paper
• Infiltration of Hematogenous Lineage Cells Into the Demyelinating Central Nervous System of Twitcher Mice

  2000cited by this paper
• Murine, canine and non-human primate models of Krabbe disease.

  2000cited by this paper
• Inhibition of Cytokinesis by a Lipid Metabolite, Psychosine

  2000cited by this paper
• X inactivation phenotype in carriers of Pelizaeus-Merzbacher disease: skewed in carriers of a duplication and random in carriers of point mutations

  2000cited by this paper
• Vacuoliting megalencephalic leukoencephalopathy with subcortical cysts, mapped to chromosome 22qtel.

  2000cited by this paper
• Genotype–phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations

  2000cited by this paper
• Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy.

  2000cited by this paper
• Metachromatic leukodystrophy: A novel mutation (c237delC) and extension of the haplotype associated with the P426L mutation

  2000cited by this paper
• Alexander disease--classification revisited and isolation of a neonatal form.

  2000cited by this paper
• Sjögren-Larsson syndrome: accumulation of free fatty alcohols in cultured fibroblasts and plasma.

  2000cited by this paper
• Adrenomyeloneuropathy: A Neuropathologic Review Featuring Its Noninflammatory Myelopathy

  2000cited by this paper
• Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy

  2000cited by this paper
• X-Linked Adrenoleukodystrophy: Overview and Prognosis as a Function of Age and Brain Magnetic Resonance Imaging Abnormality. A Study Involving 372 Patients

  2000cited by this paper
• Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome.

  2000cited by this paper
• Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis.

  2000cited by this paper
• Simvastatin and plasma very‐long‐chain fatty acids in X‐linked adrenoleukodystrophy

  2000cited by this paper
• Twitcher mice with only a single active galactosylceramide synthase gene exhibit clearly detectable but therapeutically minor phenotypic improvements

  2000cited by this paper
• Aspartoacylase gene transfer to the mammalian central nervous system with therapeutic implications for Canavan disease

  2000cited by this paper
• Lovastatin therapy for X-linked adrenoleukodystrophy: clinical and biochemical observations on 12 patients.

  2000cited by this paper
• The proteolipid protein gene and myelin disorders in man and animal models

  2000cited by this paper
• Measurements from normal umbilical cord blood of four lysosomal enzymatic activities: α-L-iduronidase (Hurler), galactocerebrosidase (globoid cell leukodystrophy), arylsulfatase A (metachromatic leukodystrophy), arylsulfatase B (Maroteaux-Lamy)

  2000cited by this paper
• Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts

  2000cited by this paper
• Murine aspartoacylase: cloning, expression and comparison with the human enzyme.

  2000cited by this paper
• Krabbe disease: genetic aspects and progress toward therapy.

  2000cited by this paper
• Transduction of fibroblasts and CD34+ progenitors using a selectable retroviral vector containing cDNAs encoding arylsulfatase A and CD24

  2000cited by this paper
• Knock‐out mouse for Canavan disease: a model for gene transfer to the central nervous system

  2000cited by this paper
• The proteolipid protein gene and myelin disorders in man and animal models.

  2000cited by this paper
• Co-expression of mutated and normal adrenoleukodystrophy protein reduces protein function: implications for gene therapy of X-linked adrenoleukodystrophy.

  2000cited by this paper
• Connatal Pelizaeus-Merzbacher disease in two girls

  2000cited by this paper
• Defective inactivation of leukotriene B4 in patients with Sjögren-Larsson syndrome.

  2000cited by this paper
• Apoptosis in the central nervous system of cerebral adrenoleukodystrophy patients.

  2000cited by this paper
• Long-term effect of bone-marrow transplantation for childhood-onset cerebral X-linked adrenoleukodystrophy.

  2000cited by this paper
• Mutations in noncoding regions of the proteolipid protein gene in Pelizaeus–Merzbacher disease

  2000cited by this paper
• A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD)

  2000cited by this paper
• Small heat shock proteins, the cytoskeleton, and inclusion body formation

  2000cited by this paper
• Variable onset of metachromatic leukodystrophy in a Vietnamese family.

  2000cited by this paper
• Determination of 30 X‐linked adrenoleukodystrophy mutations, including 15 not previously described

  2000cited by this paper
• L‐cycloserine slows the clinical and pathological course in mice with globoid cell leukodystrophy (twitcher mice)

  2000cited by this paper
• 5-Lipoxygenase inhibition: a new treatment strategy for Sjögren-Larsson syndrome.

  2000cited by this paper
• Sterol 27-hydroxylase acts on 7-ketocholesterol in human atherosclerotic lesions and macrophages in culture.

  2000cited by this paper
• Rolipram does not normalize very long-chain fatty acid levels in adrenoleukodystrophy protein-deficient fibroblasts and mice

  2000cited by this paper
• Long-term expression and transfer of arylsulfatase A into brain of arylsulfatase A-deficient mice transplanted with bone marrow expressing the arylsulfatase A cDNA from a retroviral vector

  2000cited by this paper
• Biochemistry and neuropathology of mice doubly deficient in synthesis and degradation of galactosylceramide

  2000cited by this paper
• Accumulation of N‐Acetyl‐L‐Aspartate in the Brain of the Tremor Rat, a Mutant Exhibiting Absence‐Like Seizure and Spongiform Degeneration in the Central Nervous System

  2000cited by this paper
• Distribution and characterization of GFP(+) donor hematogenous cells in Twitcher mice after bone marrow transplantation.

  2000cited by this paper
• Preterm birth in Sjögren-Larsson syndrome.

  1999cited by this paper
• The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene.

  1999cited by this paper
• The gene for leukoencephalopathy with vanishing white matter is located on chromosome 3q27.

  1999cited by this paper
• Fatal encephalopathy with astrocyte inclusions in GFAP transgenic mice.

  1998cited by this paper
• Lovastatin and sodium phenylacetate normalize the levels of very long chain fatty acids in skin fibroblasts of X‐ adrenoleukodystrophy

  1998cited by this paper
• Hematopoietic stem-cell transplantation in globoid-cell leukodystrophy.

  1998cited by this paper
• Therapy for X-adrenoleukodystrophy: normalization of very long chain fatty acids and inhibition of induction of cytokines by cAMP.

  1998cited by this paper
• Gene redundancy and pharmacological gene therapy: Implications for X-linked adrenoleukodystrophy

  1998cited by this paper
• Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy.

  1997cited by this paper
• Targeted inactivation of the X‐linked adrenoleukodystrophy gene in mice

  1997cited by this paper
• A mouse model for X-linked adrenoleukodystrophy.

  1997cited by this paper
• Adrenoleukodystrophy protein-deficient mice represent abnormality of very long chain fatty acid metabolism.

  1997cited by this paper
• Phenotype of arylsulfatase A-deficient mice: relationship to human metachromatic leukodystrophy.

  1996cited by this paper
• Prolonged survival and remyelination after hematopoietic cell transplantation in the twitcher mouse.

  1984cited by this paper
• [Metachromatic leukodystrophy and multiple sulfatase deficiency].

  1978cited by this paper

• Rare Diseases in Glycosphingolipid Metabolism.

  2022cites this paper
• Ddx20, DEAD box helicase 20, is essential for the differentiation of oligodendrocyte and maintenance of myelin gene expression

  2021cites this paper
• Selectively RNA interaction by a hnRNPA/B-like protein at presynaptic terminal of squid neuron

  2020cites this paper
• Metachromatic leukodystrophy

  2018cites this paper
• Prox1 is essential for oligodendrocyte survival and regulates oligodendrocyte apoptosis via the regulation of NOXA

  2018cites this paper
• Karyopherin Alpha Proteins Regulate Oligodendrocyte Differentiation

  2017cites this paper
• Identification of genome-wide targets of Olig2 in the adult mouse spinal cord using ChIP-Seq

  2017cites this paper
• H3K9ac and HDAC2 Activity Are Involved in the Expression of Monocarboxylate Transporter 1 in Oligodendrocyte

  2017cites this paper
• 74. Hematopoietic Cell Transplantation for Storage Diseases

  2016cites this paper
• Olig2-Targeted G-Protein-Coupled Receptor Gpr17 Regulates Oligodendrocyte Survival in Response to Lysolecithin-Induced Demyelination

  2016cites this paper
• Inherited Metabolic Disorders with Associated Movement Abnormalities

  2016cites this paper
• The Transcriptional Activator Krüppel-like Factor-6 Is Required for CNS Myelination

  2016cites this paper
• A novel SDS-stable dimer of a heterogeneous nuclear ribonucleoprotein at presynaptic terminals of squid neurons.

  2015cites this paper
• Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy

  2015cites this paper
• ВРОЖДЕННЫЕ И ПРИОБРЕТЕННЫЕ МИТОХОНДРИАЛЬНЫЕ РАССТРОЙСТВА ЦЕНТРАЛЬНОЙ НЕРВНОЙ СИСТЕМЫ

  2014cites this paper
• Demyelination in multiple sclerosis

  2014cites this paper
• Preventable infections in children with leukodystrophy

  2014cites this paper
• Diagnostic issues and clinical spectrum of childhood degenerative brain diseases

  2014cites this paper
• [Hypomyelination with atrophy of the basal ganglia and cerebellum. Contribution of two new cases to a recently reported entity].

  2014cites this paper
• Olig2 targets chromatin remodelers to enhancers to initiate oligodendrocyte differentiation.

  2013cites this paper
• Advances and Pitfalls of Cell Therapy in Metabolic Leukodystrophies

  2013cites this paper
• Transplant outcomes in leukodystrophies.

  2010cites this paper
• N‐CAM Dysfunction and Unexpected Accumulation of PSA‐NCAM in Brain of Adult‐Onset Autosomal‐Dominant Leukodystrophy

  2010cites this paper
• 15 – Inherited Metabolic Disorders Associated with Extrapyramidal Symptoms

  2010cites this paper
• The burden of inherited leukodystrophies in children

  2010cites this paper
• Secondary Schizophrenia: Psychosis associated with leukodystrophies

  2010cites this paper
• MicroRNA-mediated control of oligodendrocyte differentiation.

  2010cites this paper
• Neuro-Ophthalmologic Manifestations of Neurodegenerative Disease in Childhood

  2010cites this paper
• Shaping the oligodendrocyte identity by epigenetic control

  2010cites this paper
• Entmarkungserkrankungen

  2010cites this paper
• NASLJEDNE METABOLIČKE LEUKOENCEFALOPATIJE DJEČJE DOBI

  2009influential citation
• Oligodendrocyte Myelination in the Mammalian CNS

  2009cites this paper
• The oligodendrocyte-specific G-protein coupled receptor GPR17 is a cell-intrinsic timer of myelination

  2009cites this paper
• The Role of Animal Models in Evaluating Reasonable Safety and Efficacy for Human Trials of Cell-Based Interventions for Neurologic Conditions

  2009cites this paper
• Leukodystrophies: clinical and therapeutic aspects.

  2008cites this paper
• Nonlinear broad band dynamics are less complex in major depression.

  2008cites this paper
• Cell-based interventions for neurologic conditions

  2008cites this paper
• Immune system irregularities in lysosomal storage disorders

  2008cites this paper
• Clonal expansions of pathogenic CD8+ effector cells in the CNS of myelin mutant mice.

  2007cites this paper
• Secondary and heredodegenerative dystonia

  2007cites this paper
• Role of immune cells in animal models for inherited peripheral neuropathies

  2007cites this paper
• Molecular Pathogenesis of Genetic and Inherited Diseases Vacuolar Leukoencephalopathy with Widespread Astrogliosis in Mice Lacking Transcription Factor Nrf2

  2007cites this paper
• Chapter 13 Dementia in Young Adults

  2007cites this paper
• Juvenile metachromatic leukodystrophy.

  2007cites this paper
• MR characteristics and neuropathology in adult-onset autosomal dominant leukodystrophy with autonomic symptoms.

  2006cites this paper
• Immune Cells Contribute to Myelin Degeneration and Axonopathic Changes in Mice Overexpressing Proteolipid Protein in Oligodendrocytes

  2006cites this paper
• PEDIATRIC NEUROLOGY: A CASE-BASED REVIEW

  2006cites this paper
• Transgenic Mouse Models and Human Psychiatric Disease

  2006cites this paper
• Cystic leukoencephalopathy without megalencephaly

  2005cites this paper
• Myelinogenesis and Axonal Recognition by Oligodendrocytes in Brain Are Uncoupled in Olig1-Null Mice

  2005cites this paper
• Primary central white matter hypoplasia of the neocortex.

  2005cites this paper
• Optic atrophies in metabolic disorders.

  2005cites this paper
• Protein Misfolding as a Disease Determinant

  2004cites this paper
• Dietary Treatment of Amino Acids Inborn Errors of Metabolism

  2004cites this paper
• Familial Multiple Sclerosis and Other Inherited Disorders of the White Matter

  2004cites this paper
• Molecular characterization of an 11q14.3 microdeletion associated with leukodystrophy

  2004cites this paper
• Subacute necrotizing encephalopathy in a pig-tailed macaque (Macaca nemestrina) that resembles mitochondrial encephalopathy in humans.

  2004cites this paper
• Widespread capillary malformation associated with global developmental delay and megalencephaly

  2004cites this paper
• Progenitor Cells of the Adult Human Subcortical White Matter

  2004cites this paper
• Insuffisance surrénalienne

  2003cites this paper
• Myelination of a fetus with Pelizaeus–Merzbacher disease: Immunopathological study

  2003cites this paper
• Adult Alexander disease with autosomal dominant transmission: a distinct entity caused by mutation in the glial fibrillary acid protein gene.

  2003cites this paper
• Adrenoleukodystrophy initially diagnosed as idiopathic Addison's disease in two patients: the importance of early testing.

  2003cites this paper
• The potential of stem cells for the treatment of brain tumors and globoid cell leukodystrophy

  2003cites this paper
• EVOLUÇÃO FENOTÍPICA NA ADRENOLEUCODISTROFIA

  2003cites this paper
• Grundlagen und klinische Anwendung der MR-Spektroskopie des Gehirns

  2002cites this paper
• Role of immune cells in animal models for inherited neuropathies: facts and visions *

  2002cites this paper
• Cell transplantation, myelin repair, and multiple sclerosis.

  2002cites this paper
• Infantile Alexander's Disease: Serial Neuroradiologic Findings

  2002cites this paper
• An update on the leukodsytrophies

  2001cites this paper
• Leukodystrophy with Autonomic Symptoms Adult-Onset Autosomal Dominant MR Characteristics and Neuropathology in

  year unknowncites this paper