标题
Lysosomal Ceramide Metabolism Disorders: Implications in Parkinson’s Disease
作者
关键词
-
出版物
Journal of Clinical Medicine
Volume 9, Issue 2, Pages 594
出版商
MDPI AG
发表日期
2020-02-25
DOI
10.3390/jcm9020594
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。- Ambroxol for the Treatment of Patients With Parkinson Disease With and Without Glucocerebrosidase Gene Mutations
- (2020) Stephen Mullin et al. JAMA Neurology
- Acid ceramidase, an emerging target for anti-cancer and anti-angiogenesis
- (2019) Sung Min Cho et al. ARCHIVES OF PHARMACAL RESEARCH
- The effect of mutant GBA1 on accumulation and aggregation of α-synuclein
- (2019) Gali Maor et al. HUMAN MOLECULAR GENETICS
- GBA haploinsufficiency accelerates alpha-synuclein pathology with altered lipid metabolism in a prodromal model of Parkinson’s disease
- (2019) Masashi Ikuno et al. HUMAN MOLECULAR GENETICS
- Arylsulfatase A, a genetic modifier of Parkinson’s disease, is an α-synuclein chaperone
- (2019) Jun Sung Lee et al. BRAIN
- Evolution of prodromal parkinsonian features in a cohort of GBA mutation-positive individuals: a 6-year longitudinal study
- (2019) Micol Avenali et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Rats deficient in α-galactosidase A develop ocular manifestations of Fabry disease
- (2019) James J. Miller et al. Scientific Reports
- Lipid Metabolism in Late-Onset Alzheimer’s Disease Differs from Patients Presenting with Other Dementia Phenotypes
- (2019) Syena Sarrafpour et al. International Journal of Environmental Research and Public Health
- Progress in the understanding and treatment of Fabry disease
- (2019) James J. Miller et al. BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS
- Lysosomal enzyme activities as possible CSF biomarkers of synucleinopathies
- (2019) Silvia Paciotti et al. CLINICA CHIMICA ACTA
- Gentamicin Targets Acid Sphingomyelinase in Cancer: The Case of the Human Gastric Cancer NCI-N87 Cells
- (2019) Elisabetta Albi et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Reduced sphingolipid hydrolase activities, substrate accumulation and ganglioside decline in Parkinson’s disease
- (2019) Mylene Huebecker et al. Molecular Neurodegeneration
- The vicious cycle between α ‐synuclein aggregation and autophagic‐lysosomal dysfunction
- (2019) Giovanni Bellomo et al. MOVEMENT DISORDERS
- Revisiting the non-Gaucher-GBA-E326K carrier state: Is it sufficient to increase Parkinson's disease risk?
- (2019) Orly Goldstein et al. MOLECULAR GENETICS AND METABOLISM
- Glucocerebrosidase activity, cathepsin D and monomeric α-synuclein interactions in a stem cell derived neuronal model of a PD associated GBA1 mutation
- (2019) Shi-yu Yang et al. NEUROBIOLOGY OF DISEASE
- VDR independent induction of acid-sphingomyelinase by 1,23(OH) 2 D 3 in gastric cancer cells: Impact on apoptosis and cell morphology
- (2018) Elisabetta Albi et al. BIOCHIMIE
- Molecular regulations and therapeutic targets of Gaucher disease
- (2018) Yuehong Chen et al. CYTOKINE & GROWTH FACTOR REVIEWS
- Loss of acid ceramidase in myeloid cells suppresses intestinal neutrophil recruitment
- (2018) Mel Pilar Espaillat et al. FASEB JOURNAL
- Acid ceramidase inhibition ameliorates α-synuclein accumulation upon loss of GBA1 function
- (2018) Myung Jong Kim et al. HUMAN MOLECULAR GENETICS
- The Many Facets of Sphingolipids in the Specific Phases of Acute Inflammatory Response
- (2018) Sabine Grösch et al. MEDIATORS OF INFLAMMATION
- Characterization of Brain Lysosomal Activities in GBA-Related and Sporadic Parkinson’s Disease and Dementia with Lewy Bodies
- (2018) Tim E. Moors et al. MOLECULAR NEUROBIOLOGY
- The lysosomal enzyme alpha-Galactosidase A is deficient in Parkinson's disease brain in association with the pathologic accumulation of alpha-synuclein
- (2018) Michael P. Nelson et al. NEUROBIOLOGY OF DISEASE
- Alpha galactosidase A activity in Parkinson's disease
- (2018) R.N. Alcalay et al. NEUROBIOLOGY OF DISEASE
- Reversible Conformational Conversion of α-Synuclein into Toxic Assemblies by Glucosylceramide
- (2018) Friederike Zunke et al. NEURON
- Acid ceramidase deficiency: Farber disease and SMA-PME
- (2018) Fabian P. S. Yu et al. Orphanet Journal of Rare Diseases
- Analysis of age-related changes in psychosine metabolism in the human brain
- (2018) Michael S. Marshall et al. PLoS One
- Enhanced release of acid sphingomyelinase-enriched exosomes generates a lipidomics signature in CSF of Multiple Sclerosis patients
- (2018) Damiana Pieragostino et al. Scientific Reports
- Phenotypic Characteristics in GBA-Associated Parkinson’s Disease: A Study in a Greek Population
- (2018) Athina Simitsi et al. Journal of Parkinsons Disease
- The Association between E326K of GBA and the Risk of Parkinson’s Disease
- (2018) Yongpan Huang et al. Parkinsons Disease
- Characterization of small fiber pathology in a mouse model of Fabry disease
- (2018) Lukas Hofmann et al. eLife
- Altered Sphingolipid Balance in Capillary Cerebral Amyloid Angiopathy
- (2017) Nienke M. de Wit et al. JOURNAL OF ALZHEIMERS DISEASE
- Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience
- (2017) Barbara K. Burton et al. JOURNAL OF PEDIATRICS
- Types A and B Niemann-Pick disease
- (2017) Edward H. Schuchman et al. MOLECULAR GENETICS AND METABOLISM
- Cognitive impairment in Glucocerebrosidase (GBA)-associated PD: Not primarily associated with cerebrospinal fluid Abeta and Tau profiles
- (2017) Stefanie Lerche et al. MOVEMENT DISORDERS
- Cerebrospinal fluid β-glucocerebrosidase activity is reduced in parkinson's disease patients
- (2017) Lucilla Parnetti et al. MOVEMENT DISORDERS
- SMPD1 variants in Chinese Han patients with sporadic Parkinson's disease
- (2017) Cheng-yuan Mao et al. PARKINSONISM & RELATED DISORDERS
- A “dose” effect of mutations in the GBA gene on Parkinson's disease phenotype
- (2017) Avner Thaler et al. PARKINSONISM & RELATED DISORDERS
- Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's
- (2016) Ganqiang Liu et al. ANNALS OF NEUROLOGY
- Survival and dementia inGBA-associated Parkinson's disease: The mutation matters
- (2016) Roberto Cilia et al. ANNALS OF NEUROLOGY
- Autophagic lysosome reformation dysfunction in glucocerebrosidase deficient cells: relevance to Parkinson disease
- (2016) Joana Magalhaes et al. HUMAN MOLECULAR GENETICS
- Activation of -Glucocerebrosidase Reduces Pathological -Synuclein and Restores Lysosomal Function in Parkinson's Patient Midbrain Neurons
- (2016) J. R. Mazzulli et al. JOURNAL OF NEUROSCIENCE
- Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry
- (2016) Susan Elliott et al. MOLECULAR GENETICS AND METABOLISM
- Variants in GBA , SNCA , and MAPT influence Parkinson disease risk, age at onset, and progression
- (2016) Albert A. Davis et al. NEUROBIOLOGY OF AGING
- Leukocyte glucocerebrosidase and β-hexosaminidase activity in sporadic and genetic Parkinson disease
- (2016) Han-Joon Kim et al. PARKINSONISM & RELATED DISORDERS
- Acid ceramidase is upregulated in AML and represents a novel therapeutic target
- (2016) Su-Fern Tan et al. Oncotarget
- ER Stress and Autophagic Perturbations Lead to Elevated Extracellular α-Synuclein in GBA-N370S Parkinson's iPSC-Derived Dopamine Neurons
- (2016) Hugo J.R. Fernandes et al. Stem Cell Reports
- α-Galactosidase A Knockout Mice
- (2015) Dinesh S. Bangari et al. AMERICAN JOURNAL OF PATHOLOGY
- The molecular medicine of acid ceramidase
- (2015) Michael Frohbergh et al. BIOLOGICAL CHEMISTRY
- Glucocerebrosidase activity in Parkinson’s disease with and withoutGBAmutations
- (2015) Roy N. Alcalay et al. BRAIN
- History, genetic, and recent advances on Krabbe disease
- (2015) Adriana Carol Eleonora Graziano et al. GENE
- Glucocerebrosidase and Parkinson disease: Recent advances
- (2015) Anthony H.V. Schapira MOLECULAR AND CELLULAR NEUROSCIENCE
- Selective loss of glucocerebrosidase activity in sporadic Parkinson’s disease and dementia with Lewy bodies
- (2015) Davide Chiasserini et al. Molecular Neurodegeneration
- SMPD1 mutations and Parkinson disease
- (2015) E. Dagan et al. PARKINSONISM & RELATED DISORDERS
- The emerging role of SMPD1 mutations in Parkinson's disease: Implications for future studies
- (2015) Ziv Gan-Or et al. PARKINSONISM & RELATED DISORDERS
- Sphingolipid Metabolism Correlates with Cerebrospinal Fluid Beta Amyloid Levels in Alzheimer’s Disease
- (2015) Alfred N. Fonteh et al. PLoS One
- Cysteine cathepsins are essential in lysosomal degradation of α-synuclein
- (2015) Ryan P. McGlinchey et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Krabbe disease
- (2015) N. Sakai DRUGS OF THE FUTURE
- Reduced glucocerebrosidase is associated with increased α-synuclein in sporadic Parkinson’s disease
- (2014) Karen E. Murphy et al. BRAIN
- Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells
- (2014) Alisdair McNeill et al. BRAIN
- Arylsulphatase A activity in familial parkinsonism: a pathogenetic role?
- (2014) Elena Antelmi et al. JOURNAL OF NEUROLOGY
- Neuronal inclusions of α-synuclein contribute to the pathogenesis of Krabbe disease
- (2014) Benjamin R Smith et al. JOURNAL OF PATHOLOGY
- Cerebrospinal fluid lysosomal enzymes and alpha-synuclein in Parkinson's disease
- (2014) Lucilla Parnetti et al. MOVEMENT DISORDERS
- Ceramides and sphingomyelinases in senile plaques
- (2014) Maï Panchal et al. NEUROBIOLOGY OF DISEASE
- The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease
- (2014) R.-M. Wu et al. NEUROLOGY
- Increased plasma oligomeric alpha-synuclein in patients with lysosomal storage diseases
- (2014) S.N. Pchelina et al. NEUROSCIENCE LETTERS
- Autophagy-lysosome pathway associated neuropathology and axonal degeneration in the brains of alpha-galactosidase A-deficient mice
- (2014) Michael P Nelson et al. Acta Neuropathologica Communications
- A symptomatic Fabry disease mouse model generated by inducing globotriaosylceramide synthesis
- (2013) Atsumi Taguchi et al. BIOCHEMICAL JOURNAL
- Glucocerebrosidase mutations influence the natural history of Parkinson’s disease in a community-based incident cohort
- (2013) Sophie E. Winder-Rhodes et al. BRAIN
- The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease
- (2013) Z. Gan-Or et al. NEUROLOGY
- Unfolded protein response in Gaucher disease: from human to Drosophila
- (2013) Gali Maor et al. Orphanet Journal of Rare Diseases
- Fingolimod attenuates ceramide-induced blood–brain barrier dysfunction in multiple sclerosis by targeting reactive astrocytes
- (2012) Ruben van Doorn et al. ACTA NEUROPATHOLOGICA
- Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains
- (2012) Matthew E. Gegg et al. ANNALS OF NEUROLOGY
- Ceramidases in Hematological Malignancies: Senseless or Neglected Target?
- (2012) Gemma Fabrias et al. Anti-Cancer Agents in Medicinal Chemistry
- Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review
- (2012) Rabab Debs et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Lysosomal Dysfunction in a Mouse Model of Sandhoff Disease Leads to Accumulation of Ganglioside-Bound Amyloid- Peptide
- (2012) S. Keilani et al. JOURNAL OF NEUROSCIENCE
- Aberrant Upregulation of Astroglial Ceramide Potentiates Oligodendrocyte Injury
- (2011) SunJa Kim et al. BRAIN PATHOLOGY
- Gaucher Disease Glucocerebrosidase and α-Synuclein Form a Bidirectional Pathogenic Loop in Synucleinopathies
- (2011) Joseph R. Mazzulli et al. CELL
- Aggregation of α-synuclein in brain samples from subjects with glucocerebrosidase mutations
- (2011) Jae Hyuk Choi et al. MOLECULAR GENETICS AND METABOLISM
- Decreased Expression of Lysosomal Alpha-Galactosiase A Gene in Sporadic Parkinson’s Disease
- (2011) Guanghua Wu et al. NEUROCHEMICAL RESEARCH
- CNS expression of glucocerebrosidase corrects -synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy
- (2011) S. P. Sardi et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Arylsulphatase A (ASA) activity in parkinsonism and symptomatic essential tremor
- (2010) P. Martinelli et al. ACTA NEUROLOGICA SCANDINAVICA
- Glucocerebrosidase is present in α-synuclein inclusions in Lewy body disorders
- (2010) Ozlem Goker-Alpan et al. ACTA NEUROPATHOLOGICA
- Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onsetGLAmutation c.936+919G>A (IVS4+919G>A)
- (2009) Wuh-Liang Hwu et al. HUMAN MUTATION
- Involvement of Acid β-Glucosidase 1 in the Salvage Pathway of Ceramide Formation
- (2009) Kazuyuki Kitatani et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Psychosine Accumulates in Membrane Microdomains in the Brain of Krabbe Patients, Disrupting the Raft Architecture
- (2009) A. B. White et al. JOURNAL OF NEUROSCIENCE
- MUTATIONS IN GBA ARE ASSOCIATED WITH FAMILIAL PARKINSON DISEASE SUSCEPTIBILITY AND AGE AT ONSET
- (2009) E. Sidransky et al. NEUROLOGY
- Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease
- (2009) E. Sidransky et al. NEW ENGLAND JOURNAL OF MEDICINE
- Decreased activities of lysosomal acid alpha-D-galactosidase A in the leukocytes of sporadic Parkinson's disease
- (2008) Guanghua Wu et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
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