标题
Peroxisomal Disorders: A Review on Cerebellar Pathologies
作者
关键词
-
出版物
BRAIN PATHOLOGY
Volume 25, Issue 6, Pages 663-678
出版商
Wiley
发表日期
2015-07-23
DOI
10.1111/bpa.12290
参考文献
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。- ABCD1 deletion-induced mitochondrial dysfunction is corrected by SAHA: implication for adrenoleukodystrophy
- (2015) Mauhamad Baarine et al. JOURNAL OF NEUROCHEMISTRY
- A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency
- (2014) Rebecca Buchert et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency
- (2014) Daniel S Lieber et al. BMC Medical Genetics
- A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3
- (2014) Sacha Ferdinandusse et al. HUMAN MOLECULAR GENETICS
- Peripheral nervous system plasmalogens regulate Schwann cell differentiation and myelination
- (2014) Tiago Ferreira da Silva et al. JOURNAL OF CLINICAL INVESTIGATION
- Effects of hematopoietic stem cell transplantation on acyl-CoA oxidase deficiency: a sibling comparison study
- (2014) Raymond Y. Wang et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Hematopoietic cell transplantation does not prevent myelopathy in X-linked adrenoleukodystrophy: a retrospective study
- (2014) Björn M. van Geel et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Peroxisomal D-bifunctional protein deficiency: Three adults diagnosed by whole-exome sequencing
- (2014) M. A. Lines et al. NEUROLOGY
- Purkinje Cell Compartmentation in the Cerebellum of the Lysosomal Acid Phosphatase 2 Mutant Mouse (Nax - Naked-Ataxia Mutant Mouse)
- (2014) Karen Bailey et al. PLoS One
- Ubiquitin in the peroxisomal protein import pathway
- (2013) Tânia Francisco et al. BIOCHIMIE
- Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives
- (2013) Nancy E. Braverman et al. Developmental Disabilities Research Reviews
- Impaired mitochondrial oxidative phosphorylation in the peroxisomal disease X-linked adrenoleukodystrophy
- (2013) J. López-Erauskin et al. HUMAN MOLECULAR GENETICS
- 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
- Peroxisomal multifunctional protein-2 deficiency causes neuroinflammation and degeneration of Purkinje cells independent of very long chain fatty acid accumulation
- (2013) Simon Verheijden et al. NEUROBIOLOGY OF DISEASE
- Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency
- (2013) Hugh J McMillan et al. Orphanet Journal of Rare Diseases
- MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing
- (2013) Kristoffer Haugarvoll et al. Orphanet Journal of Rare Diseases
- The neurology of rhizomelic chondrodysplasia punctata
- (2013) Annemieke M Bams-Mengerink et al. Orphanet Journal of Rare Diseases
- The Proteome of Human Liver Peroxisomes: Identification of Five New Peroxisomal Constituents by a Label-Free Quantitative Proteomics Survey
- (2013) Thomas Gronemeyer et al. PLoS One
- Intrinsic acyl-CoA thioesterase activity of a peroxisomal ATP binding cassette transporter is required for transport and metabolism of fatty acids
- (2013) Carine De Marcos Lousa et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Oxidative stress underlying axonal degeneration in adrenoleukodystrophy: A paradigm for multifactorial neurodegenerative diseases?
- (2012) Elena Galea et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
- Functions of plasmalogen lipids in health and disease
- (2012) Nancy E. Braverman et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
- Genetics and molecular basis of human peroxisome biogenesis disorders
- (2012) Hans R. Waterham et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
- Peroxisomal ABC transporters: Structure, function and role in disease
- (2012) Masashi Morita et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
- X-linked adrenoleukodystrophy: Clinical, metabolic, genetic and pathophysiological aspects
- (2012) Stephan Kemp et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
- Disruption of Mitochondrial Homeostasis by Phytanic Acid in Cerebellum of Young Rats
- (2012) Estela Natacha Brandt Busanello et al. CEREBELLUM
- Marked inhibition of Na+, K+ - ATPase activity and the respiratory chain by phytanic acid in cerebellum from young rats: possible underlying mechanisms of cerebellar ataxia in Refsum disease
- (2012) Estela Natacha Brandt Busanello et al. JOURNAL OF BIOENERGETICS AND BIOMEMBRANES
- Peroxisome deficiency but not the defect in ether lipid synthesis causes activation of the innate immune system and axonal loss in the central nervous system
- (2012) Astrid Bottelbergs et al. Journal of Neuroinflammation
- MRI as diagnostic tool in early-onset peroxisomal disorders
- (2012) M.S. van der Knaap et al. NEUROLOGY
- Induction of Mitochondrial Changes Associated with Oxidative Stress on Very Long Chain Fatty Acids (C22:0, C24:0, or C26:0)-Treated Human Neuronal Cells (SK-NB-E)
- (2012) Amira Zarrouk et al. Oxidative Medicine and Cellular Longevity
- Oxidative Damage Compromises Energy Metabolism in the Axonal Degeneration Mouse Model of X-Adrenoleukodystrophy
- (2011) Jorge Galino et al. ANTIOXIDANTS & REDOX SIGNALING
- Phytanic acid metabolism in health and disease
- (2011) Ronald J.A. Wanders et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS
- Aminopyridines Correct Early Dysfunction and Delay Neurodegeneration in a Mouse Model of Spinocerebellar Ataxia Type 1
- (2011) R. Hourez et al. JOURNAL OF NEUROSCIENCE
- Blind sterile 2 (bs2), a hypomorphic mutation in Agps, results in cataracts and male sterility in mice
- (2011) R. Liegel et al. MOLECULAR GENETICS AND METABOLISM
- AMACR mutations cause late-onset autosomal recessive cerebellar ataxia
- (2011) D. Dick et al. NEUROLOGY
- Contrast Enhancement of Brainstem Tracts in Zellweger Spectrum Disorder: Evidence of Inflammatory Demyelination?
- (2011) K. S. Kulkarni et al. NEUROPEDIATRICS
- Incidence of Abcd1 level on the induction of cell death and organelle dysfunctions triggered by very long chain fatty acids and TNF-α on oligodendrocytes and astrocytes
- (2011) Mauhamad Baarine et al. NEUROTOXICOLOGY
- Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene
- (2011) Caroline Sevin et al. Orphanet Journal of Rare Diseases
- Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome
- (2010) Sarah B. Pierce et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Short-term fasting induces profound neuronal autophagy
- (2010) Mehrdad Alirezaei et al. Autophagy
- Lysosomal compromise and brain dysfunction: examining the role of neuroaxonal dystrophy
- (2010) Steven U. Walkley et al. BIOCHEMICAL SOCIETY TRANSACTIONS
- Pathomechanisms Underlying X-Adrenoleukodystrophy: A Three-Hit Hypothesis
- (2010) Inderjit Singh et al. BRAIN PATHOLOGY
- PEX13 deficiency in mouse brain as a model of Zellweger syndrome: abnormal cerebellum formation, reactive gliosis and oxidative stress
- (2010) C. C. Muller et al. Disease Models & Mechanisms
- Biochemistry and genetics of inherited disorders of peroxisomal fatty acid metabolism
- (2010) Paul P. Van Veldhoven JOURNAL OF LIPID RESEARCH
- Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene
- (2010) M. S. Ebberink et al. JOURNAL OF MEDICAL GENETICS
- Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy
- (2010) S. Ferdinandusse et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Combined deficiency of peroxisomal β-oxidation and ether lipid synthesis in mice causes only minor cortical neuronal migration defects but severe hypotonia
- (2010) Olga Krysko et al. MOLECULAR GENETICS AND METABOLISM
- Neurodegeneration in D-bifunctional protein deficiency: diagnostic clues and natural history using serial magnetic resonance imaging
- (2010) Aneal Khan et al. NEURORADIOLOGY
- Defects in myelination, paranode organization and Purkinje cell innervation in the ether lipid-deficient mouse cerebellum
- (2009) Andre Teigler et al. HUMAN MOLECULAR GENETICS
- A Pex7 hypomorphic mouse model for plasmalogen deficiency affecting the lens and skeleton
- (2009) Nancy Braverman et al. MOLECULAR GENETICS AND METABOLISM
- The influence of the branched-chain fatty acids pristanic acid and Refsum disease-associated phytanic acid on mitochondrial functions and calcium regulation of hippocampal neurons, astrocytes, and oligodendrocytes
- (2009) Sabine Rönicke et al. NEUROBIOLOGY OF DISEASE
- Peroxisomal acyl‐CoA‐oxidase deficiency: Two new cases
- (2008) Rosalba Carrozzo et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- 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
- Cerebral MRI as a valuable diagnostic tool in Zellweger spectrum patients
- (2008) S. Weller et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Ataxia with loss of Purkinje cells in a mouse model for Refsum disease
- (2008) S. Ferdinandusse et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Relapsing encephalopathy in a patient with -methylacyl-CoA racemase deficiency
- (2007) S A Thompson et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started