Impaired β-glucocerebrosidase activity and processing in frontotemporal dementia due to progranulin mutations
出版年份 2019 全文链接
标题
Impaired β-glucocerebrosidase activity and processing in frontotemporal dementia due to progranulin mutations
作者
关键词
-
出版物
Acta Neuropathologica Communications
Volume 7, Issue 1, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2019-12-24
DOI
10.1186/s40478-019-0872-6
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Progranulin Stimulates the In Vitro Maturation of Pro-Cathepsin D at Acidic pH
- (2019) Victoria J. Butler et al. JOURNAL OF MOLECULAR BIOLOGY
- Neuronal ceroid lipofuscinosis type-11 in an adolescent
- (2019) Mahesh Kamate et al. BRAIN & DEVELOPMENT
- Genetic screen in a large series of patients with primary progressive aphasia
- (2019) Eliana Marisa Ramos et al. Alzheimers & Dementia
- Multi-Granulin Domain Peptides Bind to Pro-Cathepsin D and Stimulate Its Enzymatic Activity More Effectively Than Progranulin in Vitro
- (2019) Victoria J. Butler et al. BIOCHEMISTRY
- Progranulin deficiency leads to reduced glucocerebrosidase activity
- (2019) Xiaolai Zhou et al. PLoS One
- Progranulin mutations result in impaired processing of prosaposin and reduced glucocerebrosidase activity
- (2019) Clarissa Valdez et al. HUMAN MOLECULAR GENETICS
- Emerging concepts of ganglioside metabolism
- (2018) Roger Sandhoff et al. FEBS LETTERS
- Progranulin Gene Therapy Improves Lysosomal Dysfunction and Microglial Pathology Associated with Frontotemporal Dementia and Neuronal Ceroid Lipofuscinosis
- (2018) Andrew E. Arrant et al. JOURNAL OF NEUROSCIENCE
- 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
- Partial Tmem106b reduction does not correct abnormalities due to progranulin haploinsufficiency
- (2018) Andrew E. Arrant et al. Molecular Neurodegeneration
- α-Synuclein accumulation and GBA deficiency due to L444P GBA mutation contributes to MPTP-induced parkinsonism
- (2018) Seung Pil Yun et al. Molecular Neurodegeneration
- Clinical variability and onset age modifiers in an extended Belgian GRN founder family
- (2018) Eline Wauters et al. NEUROBIOLOGY OF AGING
- 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
- Early lysosomal maturation deficits in microglia triggers enhanced lysosomal activity in other brain cells of progranulin knockout mice
- (2018) Julia K. Götzl et al. Molecular Neurodegeneration
- Progranulin associates with hexosaminidase A and ameliorates GM2 ganglioside accumulation and lysosomal storage in Tay-Sachs disease
- (2018) Yuehong Chen et al. JOURNAL OF MOLECULAR MEDICINE-JMM
- Progranulin regulates lysosomal function and biogenesis through acidification of lysosomes
- (2017) Yoshinori Tanaka et al. HUMAN MOLECULAR GENETICS
- Progranulin-mediated deficiency of cathepsin D results in FTD and NCL-like phenotypes in neurons derived from FTD patients
- (2017) Clarissa Valdez et al. HUMAN MOLECULAR GENETICS
- Progranulin functions as a cathepsin D chaperone to stimulate axonal outgrowth in vivo
- (2017) Sander Beel et al. HUMAN MOLECULAR GENETICS
- The Complicated Relationship between Gaucher Disease and Parkinsonism: Insights from a Rare Disease
- (2017) Elma Aflaki et al. NEURON
- Loss of TMEM106B Ameliorates Lysosomal and Frontotemporal Dementia-Related Phenotypes in Progranulin-Deficient Mice
- (2017) Zoe A. Klein et al. NEURON
- Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis
- (2017) Michael E. Ward et al. Science Translational Medicine
- Impaired prosaposin lysosomal trafficking in frontotemporal lobar degeneration due to progranulin mutations
- (2017) Xiaolai Zhou et al. Nature Communications
- Glucocerebrosidase Mutations in Parkinson Disease
- (2017) Grace O’Regan et al. Journal of Parkinsons Disease
- Enrichment of Detergent-insoluble Protein Aggregates from Human Postmortem Brain
- (2017) Ian Diner et al. Jove-Journal of Visualized Experiments
- Tandem Mass Spectrometry Multiplex Analysis of Glucosylceramide and Galactosylceramide Isoforms in Brain Tissues at Different Stages of Parkinson Disease
- (2016) Michel Boutin et al. ANALYTICAL CHEMISTRY
- Portuguese family with the co-occurrence of frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis phenotypes due to progranulin gene mutation
- (2016) Maria R. Almeida et al. NEUROBIOLOGY OF AGING
- Prosaposin is a regulator of progranulin levels and oligomerization
- (2016) Alexandra M. Nicholson et al. Nature Communications
- Progranulin Recruits HSP70 to β-Glucocerebrosidase and Is Therapeutic Against Gaucher Disease
- (2016) Jinlong Jian et al. EBioMedicine
- Association Between Progranulin and Gaucher Disease
- (2016) Jinlong Jian et al. EBioMedicine
- GBA-associated parkinsonism and dementia: beyond α-synucleinopathies?
- (2015) A. Pilotto et al. EUROPEAN JOURNAL OF NEUROLOGY
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Prosaposin facilitates sortilin-independent lysosomal trafficking of progranulin
- (2015) Xiaolai Zhou et al. JOURNAL OF CELL BIOLOGY
- Selective loss of glucocerebrosidase activity in sporadic Parkinson’s disease and dementia with Lewy bodies
- (2015) Davide Chiasserini et al. Molecular Neurodegeneration
- No evidence for substrate accumulation in Parkinson brains withGBAmutations
- (2015) Matthew E. Gegg et al. MOVEMENT DISORDERS
- Common pathobiochemical hallmarks of progranulin-associated frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis
- (2014) Julia K. Götzl et al. ACTA NEUROPATHOLOGICA
- Progranulin Gene Delivery Protects Dopaminergic Neurons in a Mouse Model of Parkinson’s Disease
- (2014) Jackalina M. Van Kampen et al. PLoS One
- Sphingolipids and lysosomal pathologies
- (2013) Heike Schulze et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS
- Dissociation of Frontotemporal Dementia-Related Deficits and Neuroinflammation in Progranulin Haploinsufficient Mice
- (2013) A. J. Filiano et al. JOURNAL OF NEUROSCIENCE
- Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease
- (2013) Jean-Charles Lambert et al. NATURE GENETICS
- Increased lysosomal biogenesis in activated microglia and exacerbated neuronal damage after traumatic brain injury in progranulin-deficient mice
- (2013) Y. Tanaka et al. NEUROSCIENCE
- Association between GRN rs5848 Polymorphism and Parkinson′s Disease in Taiwanese Population
- (2013) Kuo-Hsuan Chang et al. PLoS One
- A Multicenter Study of Glucocerebrosidase Mutations in Dementia With Lewy Bodies
- (2013) Michael A. Nalls et al. JAMA Neurology
- Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage
- (2012) Katherine R. Smith et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains
- (2012) Matthew E. Gegg et al. ANNALS OF NEUROLOGY
- Progranulin deficiency promotes neuroinflammation and neuron loss following toxin-induced injury
- (2012) Lauren Herl Martens et al. JOURNAL OF CLINICAL INVESTIGATION
- GBA mutations increase risk for Lewy body disease with and without Alzheimer disease pathology
- (2012) D. Tsuang et al. NEUROLOGY
- A harmonized classification system for FTLD-TDP pathology
- (2011) Ian R. A. Mackenzie et al. ACTA NEUROPATHOLOGICA
- Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia
- (2011) Katya Rascovsky et al. BRAIN
- Gaucher Disease Glucocerebrosidase and α-Synuclein Form a Bidirectional Pathogenic Loop in Synucleinopathies
- (2011) Joseph R. Mazzulli et al. CELL
- Classification of primary progressive aphasia and its variants
- (2011) M. L. Gorno-Tempini et al. NEUROLOGY
- Characterization of the ERAD process of the L444P mutant glucocerebrosidase variant
- (2010) Inna Bendikov-Bar et al. BLOOD CELLS MOLECULES AND DISEASES
- Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update
- (2009) Ian R. A. Mackenzie et al. ACTA NEUROPATHOLOGICA
- Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members
- (2009) N. Finch et al. BRAIN
- GRN3′UTR+78 C>T is not associated with risk for Parkinson’s disease
- (2009) B. Jasinska-Myga et al. EUROPEAN JOURNAL OF NEUROLOGY
- Hexosaminidase assays
- (2008) Michaela Wendeler et al. GLYCOCONJUGATE JOURNAL
- Deletion of the progranulin gene in patients with frontotemporal lobar degeneration or Parkinson disease
- (2008) Anne Rovelet-Lecrux et al. NEUROBIOLOGY OF DISEASE
- Progranulin variability has no major role in Parkinson disease genetic etiology
- (2008) K. Nuytemans et al. NEUROLOGY
- Prominent phenotypic variability associated with mutations in Progranulin
- (2007) Brendan J. Kelley et al. NEUROBIOLOGY OF AGING
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