相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Neuropathy in Tangier disease: A clinicopathologic study and a review of the literature
V. Pietrini et al.
ACTA NEUROLOGICA SCANDINAVICA (2010)
Peroxisomes, lipid metabolism and lipotoxicity
R. J. A. Wanders et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS (2010)
Sjögren-Larsson syndrome in Sweden. A clinical, genetic and epidemiological study
Sten Jagell et al.
CLINICAL GENETICS (2010)
Smith-Lemli-Opitz Syndrome: Neuropathological and Ophthalmological Observations
Marcella Fierro et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2010)
On the biogenesis of myelin membranes: Sorting, trafficking and cell polarity
Wia Baron et al.
FEBS LETTERS (2010)
Absence of Oligodendroglial Glucosylceramide Synthesis does not Result in CNS Myelin Abnormalities or Alter the Dysmyelinating Phenotype of CGT-Deficient Mice
Laleh Saadat et al.
GLIA (2010)
Mutation of FA2H Underlies a Complicated Form of Hereditary Spastic Paraplegia (SPG35)
Katherine J. Dick et al.
HUMAN MUTATION (2010)
Metabolic acetate therapy improves phenotype in the tremor rat model of Canavan disease
Peethambaran Arun et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2010)
Biochemistry and genetics of inherited disorders of peroxisomal fatty acid metabolism
Paul P. Van Veldhoven
JOURNAL OF LIPID RESEARCH (2010)
Pyruvate carboxylase deficiency: Mechanisms, mimics and anaplerosis
Isaac Marin-Valencia et al.
MOLECULAR GENETICS AND METABOLISM (2010)
OPINION Myelination and the trophic support of long axonss
Klaus-Armin Nave
NATURE REVIEWS NEUROSCIENCE (2010)
Two new test methods to quantify motor deficits in a marmoset model for Parkinson's disease
Peternella S. Verhave et al.
BEHAVIOURAL BRAIN RESEARCH (2009)
Plasmalogens participate in very-long-chain fatty acid-induced pathology
Pedro Brites et al.
BRAIN (2009)
Lovastatin Induces the Formation of Abnormal Myelin-Like Membrane Sheets in Primary Oligodendrocytes
Olaf Maier et al.
GLIA (2009)
Defects in myelination, paranode organization and Purkinje cell innervation in the ether lipid-deficient mouse cerebellum
Andre Teigler et al.
HUMAN MOLECULAR GENETICS (2009)
Adult Ceramide Synthase 2 (CERS2)-deficient Mice Exhibit Myelin Sheath Defects, Cerebellar Degeneration, and Hepatocarcinomas
Silke Imgrund et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2009)
Cholesterol Regulates the Endoplasmic Reticulum Exit of the Major Membrane Protein P0 Required for Peripheral Myelin Compaction
Gesine Saher et al.
JOURNAL OF NEUROSCIENCE (2009)
Specific Loss of Brain ABCA1 Increases Brain Cholesterol Uptake and Influences Neuronal Structure and Function
Joanna M. Karasinska et al.
JOURNAL OF NEUROSCIENCE (2009)
Lack of Aspartoacylase Activity Disrupts Survival and Differentiation of Neural Progenitors and Oligodendrocytes in a Mouse Model of Canavan Disease
Shalini Kumar et al.
JOURNAL OF NEUROSCIENCE RESEARCH (2009)
Expression of Pyruvate Carboxylase in Cultured Oligodendroglial, Microglial and Ependymal Cells
Radovan Murin et al.
NEUROCHEMICAL RESEARCH (2009)
Are Astrocytes the Missing Link Between Lack of Brain Aspartoacylase Activity and the Spongiform Leukodystrophy in Canavan Disease?
Morris H. Baslow et al.
NEUROCHEMICAL RESEARCH (2009)
Peroxisomes, Myelination, and Axonal Integrity in the CNS
Myriam Baes et al.
NEUROSCIENTIST (2009)
Effect of cholesterol on structural and mechanical properties of membranes depends on lipid chain saturation
Jianjun Pan et al.
PHYSICAL REVIEW E (2009)
Ablation of cholesterol biosynthesis in neural stem cells increases their VEGF expression and angiogenesis but causes neuron apoptosis
Kanako Saito et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
SCAP is required for timely and proper myelin membrane synthesis
Mark H. G. Verheijen et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia
Simon Edvardson et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Sphingomyelin synthase 2 deficiency attenuates NFκB activation
Tiruneh K. Hailemariam et al.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY (2008)
Safety of statins
William Virgil Brown
CURRENT OPINION IN LIPIDOLOGY (2008)
Oligodendroglial impact on axonal function and survival - a hypothesis
Celia Michele Kassmann et al.
CURRENT OPINION IN NEUROLOGY (2008)
Phosphatidic acid mediates demyelination in Lpin1 mutant mice
Karim Nadra et al.
GENES & DEVELOPMENT (2008)
Nur7 Is a Nonsense Mutation in the Mouse Aspartoacylase Gene That Causes Spongy Degeneration of the CNS
Maria Traka et al.
JOURNAL OF NEUROSCIENCE (2008)
Absence of 2-hydroxylated sphingolipids is compatible with normal neural development but causes late-onset axon and myelin sheath degeneration
Inge Zoeller et al.
JOURNAL OF NEUROSCIENCE (2008)
The role and metabolism of sulfatide in the nervous system
Matthias Eckhardt
MOLECULAR NEUROBIOLOGY (2008)
Inhibition of Rho family functions by lovastatin promotes myelin repair in ameliorating experimental autoimmune encephalomyelitis
Ajaib Singh Paintlia et al.
MOLECULAR PHARMACOLOGY (2008)
Membrane lipids: where they are and how they behave
Gerrit van Meer et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2008)
The Mystery and Magic of Glia: A Perspective on Their Roles in Health and Disease
Ben A. Barres
NEURON (2008)
A simple and universal method for the separation and identification of phospholipid molecular species
Kim Retra et al.
RAPID COMMUNICATIONS IN MASS SPECTROMETRY (2008)
Murine models of acute neuronopathic Gaucher disease
Ida Berglin Enquist et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease
E. H. Schuchman
JOURNAL OF INHERITED METABOLIC DISEASE (2007)
Axonal loss and neuroinflammation caused by peroxisome-deficient oligodendrocytes
Celia M. Kassmann et al.
NATURE GENETICS (2007)
SRIEBP-1c expression in Schwann cells is affected by diabetes and nutritional status
Anne-Sophie de Preux et al.
MOLECULAR AND CELLULAR NEUROSCIENCE (2007)
Targeted delivery of proteins across the blood-brain barrier
Brian J. Spencer et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Nodal protrusions, increased schmidt-lanterman incisures, and paranodal disorganization are characteristic features of sulfatide-deficient peripheral nerves
Tomiko Hoshi et al.
GLIA (2007)
Rapid conduction and the evolution of giant axons and myelinated fibers
D. K. Hartline et al.
CURRENT BIOLOGY (2007)
Selective expression of LDLR and VLDLR in myelinating oligodendrocytes
Shufang Zhao et al.
DEVELOPMENTAL DYNAMICS (2007)
Peroxisome biogenesis disorders
Steven J. Steinberg et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2006)
X-linked adrenoleukodystrophy:: Clinical, biochemical and pathogenetic aspects
Johannes Berger et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2006)
Perturbed interactions of mutant proteolipid protein/DM20 with cholesterol and lipid rafts in oligodendroglia:: Implications for dysmyelination in spastic paraplegia
Eva-Maria Kraemer-Albers et al.
JOURNAL OF NEUROSCIENCE (2006)
Canavan disease and the role of N-acetylaspartate in myelin synthesis
Aryan M. A. Namboodiri et al.
MOLECULAR AND CELLULAR ENDOCRINOLOGY (2006)
Statin safety: A systematic review
M Law et al.
AMERICAN JOURNAL OF CARDIOLOGY (2006)
Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy
LS Correa-Cerro et al.
HUMAN MOLECULAR GENETICS (2006)
Sulfatide is essential for the maintenance of CNS myelin and axon structure
J Marcus et al.
GLIA (2006)
A case of pyruvate carboxylase deficiency with atypical clinical and neuro radiological presentation
M Schiff et al.
MOLECULAR GENETICS AND METABOLISM (2006)
Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene
G. N. Gallus et al.
NEUROLOGICAL SCIENCES (2006)
Cerebrotendinous xanthomatosis - Possible higher prevalence than previously recognized
MT Lorincz et al.
ARCHIVES OF NEUROLOGY (2005)
Cholesterol reduces membrane electroporation and electric deformation of small bilayer vesicles
S Kakorin et al.
BIOPHYSICAL CHEMISTRY (2005)
Defective N-acetylaspartate catabolism reduces brain acetate levels and myelin lipid synthesis in Canavan's disease
CN Madhavarao et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
High cholesterol level is essential for myelin membrane growth
G Saher et al.
NATURE NEUROSCIENCE (2005)
HMG-CoA reductase inhibitor augments survival and differentiation of oligodendrocyte progenitors in animal model of multiple sclerosis
AS Paintlia et al.
FASEB JOURNAL (2005)
Disorders of intermediary metabolism: Toxic leukoencephalopathies
F Horster et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2005)
Functions and biosynthesis of plasmalogens in health and disease
P Brites et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS (2004)
Sulfatide is a negative regulator of oligodendrocyte differentiation: Development in sulfatide-null mice
Y Hirahara et al.
GLIA (2004)
Canavan disease: Carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay
A Feigenbaum et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
Synergistic interactions of lipids and myelin basic protein
YF Hu et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome
E Ciara et al.
CLINICAL GENETICS (2004)
The human FA2H gene encodes a fatty acid 2-hydroxylase
NL Alderson et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Oral simvastatin treatment in relapsing-remitting multiple sclerosis
T Vollmer et al.
LANCET (2004)
Immunohistochemical localization of asparoacylase in the rat central nervous system
CN Madhavarao et al.
JOURNAL OF COMPARATIVE NEUROLOGY (2004)
MRI and H-1 MRS findings in Smith-Lemli-Opitz syndrome
PA Caruso et al.
NEURORADIOLOGY (2004)
Local regulation of fat metabolism in peripheral nerves
MHG Verheijen et al.
GENES & DEVELOPMENT (2003)
Role of leukotrienes as indicators of the inflammatory demyelinating reaction in x-linked cerebral adrenoleukodystrophy
E Mayatepek et al.
JOURNAL OF NEUROLOGY (2003)
Impaired neuronal migration and endochondral ossification in Pex7 knockout mice:: a model for rhizomelic chondrodysplasia punctata
P Brites et al.
HUMAN MOLECULAR GENETICS (2003)
Globoid cell leukodystrophy (Krabbe's disease): Update
K Suzuki
JOURNAL OF CHILD NEUROLOGY (2003)
Inactivation of ether lipid biosynthesis causes male infertility, defects in eye development and optic nerve hypoplasia in mice
C Rodemer et al.
HUMAN MOLECULAR GENETICS (2003)
Pex13 inactivation in the mouse disrupts peroxisome biogenesis and leads to a Zellweger syndrome phenotype
M Maxwell et al.
MOLECULAR AND CELLULAR BIOLOGY (2003)
Therapeutic potential of lovastatin in multiple sclerosis
A Sena et al.
JOURNAL OF NEUROLOGY (2003)
Lipid-protein interactions in biological membranes: a structural perspective
AG Lee
BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES (2003)
Molecular dynamics simulations of phospholipid bilayers with cholesterol
C Hofsäss et al.
BIOPHYSICAL JOURNAL (2003)
Mapping cortical change across the human life span
ER Sowell et al.
NATURE NEUROSCIENCE (2003)
Turnover of myelin lipids in aging brain
S Ando et al.
NEUROCHEMICAL RESEARCH (2003)
Sphingolipid partitioning into ordered domains in cholesterol-free and cholesterol-containing lipid bilayers
TY Wang et al.
BIOPHYSICAL JOURNAL (2003)
Immunomodulation of experimental autoimmune encephalomyelitis in the Lewis rats by Lovastatin
R Stanislaus et al.
NEUROSCIENCE LETTERS (2002)
The HMG-CoA reductase inhibitor, atorvastatin, promotes a Th2 bias and reverses paralysis in central nervous system autoimmune disease
S Youssef et al.
NATURE (2002)
Deciphering peripheral nerve myelination by using Schwann cell expression profiling
R Nagarajan et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
Statins and risk of polyneuropathy -: A case-control study
D Gaist et al.
NEUROLOGY (2002)
Identification of the peroxisomal β-oxidation enzymes involved in the degradation of leukotrienes
S Ferdinandusse et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2002)
Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation
AS Wierzbicki et al.
JOURNAL OF NEUROCHEMISTRY (2002)
Parameters related to lipid metabolism as markers of myelination in mouse brain
ED Muse et al.
JOURNAL OF NEUROCHEMISTRY (2001)
Potential environmental and host participants in the early white matter lesion of adreno-leukodystrophy: Morphologic evidence for CD8 cytotoxic T cells, cytolysis of oligodendrocytes, and CD1-mediated lipid antigen presentation
M Ito et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2001)
7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome
BU Fitzky et al.
JOURNAL OF CLINICAL INVESTIGATION (2001)
Intraneuronal N-acetylaspartate supplies acetyl groups for myelin lipid synthesis:: evidence for myelin-associated aspartoacylase
G Chakraborty et al.
JOURNAL OF NEUROCHEMISTRY (2001)
Plasmalogens: biosynthesis and functions
N Nagan et al.
PROGRESS IN LIPID RESEARCH (2001)
Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith-Lemli-Opitz syndrome
CA Wassif et al.
HUMAN MOLECULAR GENETICS (2001)
Assembly of myelin by association of proteolipid protein with cholesterol- and galactosylceramide-rich membrane domains
M Simons et al.
JOURNAL OF CELL BIOLOGY (2000)
Myelin synthesis in the peripheral nervous system
B Garbay et al.
PROGRESS IN NEUROBIOLOGY (2000)
Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis
A Verrips et al.
BRAIN (2000)
The Smith-Lemli-Opitz syndrome
RI Kelley et al.
JOURNAL OF MEDICAL GENETICS (2000)
Mutational spectrum in the Δ7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome
M Witsch-Baumgartner et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)
RSH/Smith-Lemli-Opitz syndrome: A multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis
FD Porter
MOLECULAR GENETICS AND METABOLISM (2000)
分享论文
