Related references
Note: Only part of the references are listed.High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets
Christopher A. Wassif et al.
GENETICS IN MEDICINE (2016)
Evidence that the rab5 effector APPL1 mediates APP-βCTF-induced dysfunction of endosomes in Down syndrome and Alzheimer's disease
S. Kim et al.
MOLECULAR PSYCHIATRY (2016)
Restricted Location of PSEN2/γ-Secretase Determines Substrate Specificity and Generates an Intracellular Aβ Pool
Ragna Sannerud et al.
CELL (2016)
Endolysosomes Are the Principal Intracellular Sites of Acid Hydrolase Activity
Nicholas A. Bright et al.
CURRENT BIOLOGY (2016)
Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology
Emma L. Clayton et al.
ACTA NEUROPATHOLOGICA (2015)
Early etiology of Alzheimer's disease: tipping the balance toward autophagy or endosomal dysfunction?
Aleksandar Peric et al.
ACTA NEUROPATHOLOGICA (2015)
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway
Giuseppina Di Fruscio et al.
AUTOPHAGY (2015)
Abnormal cortical lysosomal β-hexosaminidase and β-galactosidase activity at post-synaptic sites during Alzheimer's disease progression
Alessandro Magini et al.
INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY (2015)
ESCRTs regulate amyloid precursor protein sorting in multivesicular bodies and intracellular amyloid-β accumulation
James R. Edgar et al.
JOURNAL OF CELL SCIENCE (2015)
Neuronal-Targeted TFEB Accelerates Lysosomal Degradation of APP, Reducing Aβ Generation and Amyloid Plaque Pathogenesis
Qingli Xiao et al.
JOURNAL OF NEUROSCIENCE (2015)
Altered lysosomal proteins in neural-derived plasma exosomes in preclinical Alzheimer disease
Edward J. Goetzl et al.
NEUROLOGY (2015)
Massive accumulation of luminal protease-deficient axonal lysosomes at Alzheimer's disease amyloid plaques
Swetha Gowrishankar et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2015)
Cardiorespiratory fitness is associated with brain structure, cognition, and mood in a middle-aged cohort at risk for Alzheimer's disease
Elizabeth A. Boots et al.
BRAIN IMAGING AND BEHAVIOR (2015)
Gene-Wise Association of Variants in Four Lysosomal Storage Disorder Genes in Neuropathologically Confirmed Lewy Body Disease
Lorraine N. Clark et al.
PLOS ONE (2015)
Lysosomal Enzyme Glucocerebrosidase Protects against Aβ1-42 Oligomer-Induced Neurotoxicity
Seulah Choi et al.
PLOS ONE (2015)
Comparison between the Aggregation of Human and Rodent Amyloid β-Proteins in GM1 Ganglioside Clusters
Hiroshi Ueno et al.
BIOCHEMISTRY (2014)
Defective macroautophagic turnover of brain lipids in the TgCRND8 Alzheimer mouse model: prevention by correcting lysosomal proteolytic deficits
Dun-Sheng Yang et al.
BRAIN (2014)
Multiple pathogenic proteins implicated in neuronopathic Gaucher disease mice
You-hai Xu et al.
HUMAN MOLECULAR GENETICS (2014)
Alzheimer Presenilin-1 Mutations Dramatically Reduce Trimming of Long Amyloid β-Peptides (Aβ) by γ-Secretase to Increase 42-to-40-Residue Aβ
Marty A. Fernandez et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2014)
Single-Walled Carbon Nanotubes Alleviate Autophagic/Lysosomal Defects in Primary Glia from a Mouse Model of Alzheimer's Disease
Xue Xue et al.
NANO LETTERS (2014)
Intracellular amyloid and the neuronal origin of Alzheimer neuritic plaques
Anna Pensalfini et al.
NEUROBIOLOGY OF DISEASE (2014)
Lysosomal Network Proteins as Potential Novel CSF Biomarkers for Alzheimer's Disease
Andrea Armstrong et al.
NEUROMOLECULAR MEDICINE (2014)
Soluble Aβ Oligomers Are Rapidly Sequestered from Brain ISF In Vivo and Bind GM1 Ganglioside on Cellular Membranes
Soyon Hong et al.
NEURON (2014)
PICALM modulates autophagy activity and tau accumulation
Kevin Moreau et al.
NATURE COMMUNICATIONS (2014)
The Amyloid Precursor Protein is rapidly transported from the Golgi apparatus to the lysosome and where it is processed into beta-amyloid
Joshua H. K. Tam et al.
MOLECULAR BRAIN (2014)
Comparison of Parkinson Risk in Ashkenazi Jewish Patients With Gaucher Disease and GBA Heterozygotes
Roy N. Alcalay et al.
JAMA NEUROLOGY (2014)
The Alzheimer's β-secretase BACE1 localizes to normal presynaptic terminals and to dystrophic presynaptic terminals surrounding amyloid plaques
Patty C. Kandalepas et al.
ACTA NEUROPATHOLOGICA (2013)
Partitioning and confinement of GM1 ganglioside induced by amyloid aggregates
Martino Calamai et al.
FEBS LETTERS (2013)
Estimation and partitioning of polygenic variation captured by common SNPs for Alzheimer's disease, multiple sclerosis and endometriosis
S. Hong Lee et al.
HUMAN MOLECULAR GENETICS (2013)
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease
Jean-Charles Lambert et al.
NATURE GENETICS (2013)
Alterations on Na+,K+-ATPase and Acetylcholinesterase Activities Induced by Amyloid-β Peptide in Rat Brain and GM1 Ganglioside Neuroprotective Action
Fernando Kreutz et al.
NEUROCHEMICAL RESEARCH (2013)
Monosialoanglioside improves memory deficits and relieves oxidative stress in the hippocampus of rat model of Alzheimer's disease
Rui Yang et al.
NEUROLOGICAL SCIENCES (2013)
Alzheimer's Disease: Analyzing the Missing Heritability
Perry G. Ridge et al.
PLOS ONE (2013)
Lysosomal NEU1 deficiency affects amyloid precursor protein levels and amyloid-β secretion via deregulated lysosomal exocytosis
Ida Annunziata et al.
NATURE COMMUNICATIONS (2013)
Phosphatidylinositol-3-phosphate regulates sorting and processing of amyloid precursor protein through the endosomal system
Etienne Morel et al.
NATURE COMMUNICATIONS (2013)
A Paired RNAi and RabGAP Overexpression Screen Identifies Rab11 as a Regulator of β-Amyloid Production
Vinod Udayar et al.
CELL REPORTS (2013)
A Multicenter Study of Glucocerebrosidase Mutations in Dementia With Lewy Bodies
Michael A. Nalls et al.
JAMA NEUROLOGY (2013)
Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage
Katherine R. Smith et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
An Approach to Glycobiology from Glycolipidomics: Ganglioside Molecular Scanning in the Brains of Patients with Alzheimer's Disease by TLC-Blot/Matrix Assisted Laser Desorption/Ionization-Time of Flight MS
Takao Taki
BIOLOGICAL & PHARMACEUTICAL BULLETIN (2012)
The mechanism of γ-Secretase dysfunction in familial Alzheimer disease
Lucia Chavez-Gutierrez et al.
EMBO JOURNAL (2012)
Comparative Lipidomic Analysis of Mouse and Human Brain with Alzheimer Disease
Robin B. Chan et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2012)
Cathepsin B Degrades Amyloid-β in Mice Expressing Wild-type Human Amyloid Precursor Protein
Chao Wang et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2012)
Autophagosomes initiate distally and mature during transport toward the cell soma in primary neurons
Sandra Maday et al.
JOURNAL OF CELL BIOLOGY (2012)
Lysosomal calcium homeostasis defects, not proton pump defects, cause endo-lysosomal dysfunction in PSEN-deficient cells
Katrijn Coen et al.
JOURNAL OF CELL BIOLOGY (2012)
Lysosomal Dysfunction in a Mouse Model of Sandhoff Disease Leads to Accumulation of Ganglioside-Bound Amyloid-β Peptide
Serene Keilani et al.
JOURNAL OF NEUROSCIENCE (2012)
Defective lysosomal proteolysis and axonal transport are early pathogenic events that worsen with age leading to increased APP metabolism and synaptic Abeta in transgenic APP/PS1 hippocampus
Manuel Torres et al.
Molecular Neurodegeneration (2012)
Amyloid Precursor Protein (APP) Mediated Regulation of Ganglioside Homeostasis Linking Alzheimer's Disease Pathology with Ganglioside Metabolism
Marcus O. W. Grimm et al.
PLOS ONE (2012)
Proteolytic Degradation of Amyloid β-Protein
Takaomi Saido et al.
COLD SPRING HARBOR PERSPECTIVES IN MEDICINE (2012)
Reversal of autophagy dysfunction in the TgCRND8 mouse model of Alzheimer's disease ameliorates amyloid pathologies and memory deficits
Dun-Sheng Yang et al.
BRAIN (2011)
Lysosomal Proteolysis Inhibition Selectively Disrupts Axonal Transport of Degradative Organelles and Causes an Alzheimer's-Like Axonal Dystrophy
Sooyeon Lee et al.
JOURNAL OF NEUROSCIENCE (2011)
Changes in cognition
Marilyn S. Albert
NEUROBIOLOGY OF AGING (2011)
Defects in the Medial Entorhinal Cortex and Dentate Gyrus in the Mouse Model of Sanfilippo Syndrome Type B
Kazuhiro Ohmi et al.
PLOS ONE (2011)
Multicolor time-stamp reveals the dynamics and toxicity of amyloid deposition
Carlo Condello et al.
SCIENTIFIC REPORTS (2011)
Ganglioside metabolism in a transgenic mouse model of Alzheimer's disease: expression of Chol-1 alpha antigens in the brain
Toshio Ariga et al.
ASN NEURO (2010)
Increased expression of the lysosomal cholesterol transporter NPC1 in Alzheimer's disease
Katarina Kagedal et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS (2010)
Lysosomal Proteolysis and Autophagy Require Presenilin 1 and Are Disrupted by Alzheimer-Related PS1 Mutations
Ju-Hyun Lee et al.
CELL (2010)
ADAM10 is the physiologically relevant, constitutive α-secretase of the amyloid precursor protein in primary neurons
Peer-Hendrik Kuhn et al.
EMBO JOURNAL (2010)
Identification and Characterization of 15 Novel GALC Gene Mutations Causing Krabbe Disease
Barbara Tappino et al.
HUMAN MUTATION (2010)
Cigarette Smoking is a Risk Factor for Alzheimer's Disease: An Analysis Controlling for Tobacco Industry Affiliation
Janine K. Cataldo et al.
JOURNAL OF ALZHEIMERS DISEASE (2010)
Membrane Localization of β-Amyloid 1-42 in Lysosomes A POSSIBLE MECHANISM FOR LYSOSOME LABILIZATION
Rui-Qin Liu et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2010)
Macroautophagy Is Not Directly Involved in the Metabolism of Amyloid Precursor Protein
Barry Boland et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2010)
Genetics of Alzheimer Disease
Lynn M. Bekris et al.
JOURNAL OF GERIATRIC PSYCHIATRY AND NEUROLOGY (2010)
Alzheimer's-related endosome dysfunction in Down syndrome is Aβ-independent but requires APP and is reversed by BACE-1 inhibition
Ying Jiang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Decreased Clearance of CNS β-Amyloid in Alzheimer's Disease
Kwasi G. Mawuenyega et al.
SCIENCE (2010)
Severely dystrophic axons at amyloid plaques remain continuous and connected to viable cell bodies
Robert Adalbert et al.
BRAIN (2009)
High Incidence of the Cardiac Variant of Fabry Disease Revealed by Newborn Screening in the Taiwan Chinese Population
Hsiang-Yu Lin et al.
CIRCULATION-CARDIOVASCULAR GENETICS (2009)
Newborn Screening for Fabry Disease in Taiwan Reveals a High Incidence of the Later-Onset GLA Mutation c.936+919G > A (IVS4+919G > A)
Wuh-Liang Hwu et al.
HUMAN MUTATION (2009)
γ-Secretase: Successive Tripeptide and Tetrapeptide Release from the Transmembrane Domain of β-Carboxyl Terminal Fragment
Mako Takami et al.
JOURNAL OF NEUROSCIENCE (2009)
Elimination of GD3 synthase improves memory and reduces amyloid-β plaque load in transgenic mice
Alexandra Bernardo et al.
NEUROBIOLOGY OF AGING (2009)
Newborn Screening for Krabbe Disease: the New York State Model
Patricia K. Duffner et al.
PEDIATRIC NEUROLOGY (2009)
Down syndrome fibroblast model of Alzheimer-related endosome pathology - Accelerated endocytosis promotes late endocytic defects
Anne M. Cataldo et al.
AMERICAN JOURNAL OF PATHOLOGY (2008)
Diagnosis and treatment of dementia: 1. Risk assessment and primary prevention of Alzheimer disease
Christopher Patterson et al.
CANADIAN MEDICAL ASSOCIATION JOURNAL (2008)
A novel deletion in progranulin gene is associated with FTDP-17 and CBS
Luisa Benussi et al.
NEUROBIOLOGY OF AGING (2008)
Cathepsin D expression is decreased in Alzheimer's disease fibroblasts
Lorena Urbanelli et al.
NEUROBIOLOGY OF AGING (2008)
Genotype-related changes of ganglioside composition in brain regions of transgenic mouse models of Alzheimer's disease
Laurence Barrier et al.
NEUROBIOLOGY OF AGING (2007)
Prevalence of dementia in the united states: The aging, demographics, and memory study
B. L. Plassman et al.
NEUROEPIDEMIOLOGY (2007)
Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life
Raymond Y. Wang et al.
GENETICS IN MEDICINE (2007)
Increased cholesterol in A beta-positive nerve terminals from Alzheimer's disease cortex
Karen Hoppens Gylys et al.
NEUROBIOLOGY OF AGING (2007)
Mediterranean diet, Alzheimer disease, and vascular mediation
Nikolaos Scarmeas et al.
ARCHIVES OF NEUROLOGY (2006)
Sorting through the cell biology of Alzheimer's disease: Intracellular pathways to pathogenesis
Scott A. Small et al.
NEURON (2006)
Antiamyloidogenic and neuroprotective functions of cathepsin B: implications for Alzheimer's disease
Sarah Mueller-Steiner et al.
NEURON (2006)
Alzheimer's disease β-amyloid peptides are released in association with exosomes
Lawrence Rajendran et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)
Increased App expression in a mouse model of Down's syndrome disrupts NGF transport and causes cholinergic neuron degeneration
Ahmad Salehi et al.
NEURON (2006)
High incidence of later-onset Fabry disease revealed by newborn screening
Marco Spada et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Role of genes and environments for explaining Alzheimer disease
M Gatz et al.
ARCHIVES OF GENERAL PSYCHIATRY (2006)
Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis
Eija Siintola et al.
BRAIN (2006)
Macroautophagy -: a novel β-amyloid peptide-generating pathway activated in Alzheimer's disease
WH Yu et al.
JOURNAL OF CELL BIOLOGY (2005)
Neuronal sorting protein-related receptor sorLA/LR11 regulates processing of the amyloid precursor protein
OM Andersen et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
Inhibition of glycosphingolipid biosynthesis reduces secretion of the β-amyloid precursor protein and amyloid β-peptide
IY Tamboli et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
Enhanced GM1 ganglioside catabolism in cultured fibroblasts from Alzheimer patients
M Pitto et al.
NEUROBIOLOGY OF AGING (2005)
Physical activity, APOE genotype, and dementia risk: Findings from the Cardiovascular Health Cognition Study
LJ Podewils et al.
AMERICAN JOURNAL OF EPIDEMIOLOGY (2005)
Extensive involvement of autophagy in Alzheimer disease: An immuno-electron microscopy study
RA Nixon et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2005)
Structural membrane alterations in Alzheimer brains found to be associated with regional disease development; increased density of gangliosides GM1 and GM2 and loss of cholesterol in detergent-resistant membrane domains
M Molander-Melin et al.
JOURNAL OF NEUROCHEMISTRY (2005)
Oligomerization of Alzheimer's β-amyloid within processes and synapses of cultured neurons and brain
RH Takahashi et al.
JOURNAL OF NEUROSCIENCE (2004)
Intracellular accumulation of amyloidogenic fragments of amyloid-β precursor protein in neurons with Niemann-Pick type C defects is associated with endosomal abnormalities
LW Jin et al.
AMERICAN JOURNAL OF PATHOLOGY (2004)
Presenilin 1 mediates the turnover of telencephalin in hippocampal neurons via an autophagic degradative pathway
C Esselens et al.
JOURNAL OF CELL BIOLOGY (2004)
Autophagic vacuoles are enriched in amyloid precursor protein-secretase activities:: implications for β-amyloid peptide over-production and localization in Alzheimer's disease
WH Yu et al.
INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY (2004)
Subcellular topography of neuronal Aβ peptide in APPxPS1 transgenic mice
D Langui et al.
AMERICAN JOURNAL OF PATHOLOGY (2004)
Aβ localization in abnormal endosomes:: association with earliest Aβ elevations in AD and Down syndrome
AM Cataldo et al.
NEUROBIOLOGY OF AGING (2004)
A seed for Alzheimer amyloid in the brain
H Hayashi et al.
JOURNAL OF NEUROSCIENCE (2004)
Degradative organelles containing mislocalized α- and β-synuclein proliferate in presenilin-1 null neurons
CA Wilson et al.
JOURNAL OF CELL BIOLOGY (2004)
Up-regulation of glycohydrolases in Alzheimer's Disease fibroblasts correlates with Ras activation
C Emiliani et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
Rab5-stimulated up-regulation of the endocytic pathway increases intracellular β-cleaved amyloid precursor protein carboxyl-terminal fragment levels and Aβ production
OM Grbovic et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
Demonstration by FRET of BACE interaction with the amyloid precursor protein at the cell surface and in early endosomes
A Kinoshita et al.
JOURNAL OF CELL SCIENCE (2003)
Presenilin-1, nicastrin, amyloid precursor protein, and γ-secretase activity are co-localized in the lysosomal membrane
SH Pasternak et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
CD2AP/CMS regulates endosome morphology and traffic to the degradative pathway through its interaction with Rab4 and c-Cbl
M Cormont et al.
TRAFFIC (2003)
Early intraneuronal Aβ deposition in the hippocampus of APP transgenic mice
FS Shie et al.
NEUROREPORT (2003)
Effect of acid maltase deficiency on the endosomal/lysosomal system and glucose transporter 4
M Orth et al.
NEUROMUSCULAR DISORDERS (2003)
Intraneuronal Alzheimer Aβ42 accumulates in multivesicular bodies and is associated with synaptic pathology
RH Takahashi et al.
AMERICAN JOURNAL OF PATHOLOGY (2002)
Risk factors for Alzheimer's disease:: A prospective analysis from the Canadian Study of Health and Aging
J Lindsay et al.
AMERICAN JOURNAL OF EPIDEMIOLOGY (2002)
Late-life engagement in social and leisure activities is associated with a decreased risk of dementia: A longitudinal study from the kungsholmen project
HX Wang et al.
AMERICAN JOURNAL OF EPIDEMIOLOGY (2002)
Alzheimer's disease-related overexpression of the cation-dependent mannose 6-phosphate receptor increases Aβ secretion -: Role for altered lysosomal hydrolase distribution in β-amyloidogenesis
PM Mathews et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
Smoking as a risk factor for Alzheimer's disease: contrasting evidence from a systematic review of case-control and cohort studies
OP Almeida et al.
ADDICTION (2002)
Evidence that neurones accumulating amyloid can undergo lysis to form amyloid plaques in Alzheimer's disease
MR D'Andrea et al.
HISTOPATHOLOGY (2001)
Maturation and endosomal targeting of β-site amyloid precursor protein-cleaving enzyme -: The Alzheimer's disease β-secretase
JT Huse et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2000)
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)
I Nishino et al.
NATURE (2000)
Endocytic pathway abnormalities precede amyloid β deposition in sporadic Alzheimer's disease and Down syndrome -: Differential effects of APOE genotype and presenilin mutations
AM Cataldo et al.
AMERICAN JOURNAL OF PATHOLOGY (2000)