Research graph
References from Lysosomal gene Hexb displays haploinsufficiency in a knock-in mouse model of Alzheimer’s disease. Local targets link to admitted publications; unresolved targets remain external evidence.
Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes
10.1001/jamaneurol.2014.313 · 2014 · External reference
Lysosomal NEU1 deficiency affects amyloid precursor protein levels and amyloid-beta secretion via deregulated lysosomal exocytosis
10.1038/ncomms3734 · 2013 · External reference
Lysosome-associated membrane protein 1 (LAMP-1) in Alzheimer’s disease
10.1111/j.1365-2990.2006.00756.x · 2006 · External reference
Genotype-related changes of ganglioside composition in brain regions of transgenic mouse models of Alzheimer’s disease
10.1016/j.neurobiolaging.2006.08.002 · 2007 · External reference
Axonal dystrophy in the brain of mice with Sanfilippo syndrome
10.1016/j.expneurol.2017.06.010 · 2017 · External reference
New insights on the genetic etiology of Alzheimer’s and related dementia
2020 · External reference
Immunodetection of cathepsin D in neuritic plaques found in brains of patients with dementia of Alzheimer type
1989 · External reference
Age at onset: an essential variable for the definition of genetic risk factors for sporadic Alzheimer’s disease
10.1111/j.1749-6632.2005.tb06138.x · 2005 · External reference
Natural history of infantile G(M2) gangliosidosis
10.1542/peds.2011-0078 · 2011 · External reference
Amyloid-beta and tau: the trigger and bullet in Alzheimer disease pathogenesis
10.1001/jamaneurol.2013.5847 · 2014 · External reference
Macroautophagy is not directly involved in the metabolism of amyloid precursor protein
10.1074/jbc.m110.186411 · 2010 · External reference
10.1073/pnas.87.10.3861
10.1073/pnas.87.10.3861 · External reference
10.1073/pnas.88.24.10998
10.1073/pnas.88.24.10998 · External reference
Endocytic pathway abnormalities precede amyloid beta deposition in sporadic Alzheimer’s disease and Down syndrome: differential effects of APOE genotype and presenilin mutations
10.1016/s0002-9440(10)64538-5 · 2000 · External reference
Haplodeficiency of Cathepsin D does not affect cerebral amyloidosis and autophagy in APP/PS1 transgenic mice
10.1111/jnc.14048 · 2017 · External reference
Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease
10.1038/nature12825 · 2014 · External reference
Variation in NPC1, the gene encoding Niemann-Pick C1, a protein involved in intracellular cholesterol transport, is associated with Alzheimer disease and/or aging in the Polish population
10.1016/j.neulet.2008.09.046 · 2008 · External reference
Lysosomal storage disorders: molecular basis and laboratory testing
10.1186/1479-7364-5-3-156 · 2011 · External reference
Incidence and carrier frequency of Sandhoff disease in Saskatchewan determined using a novel substrate with detection by tandem mass spectrometry and molecular genetic analysis
10.1016/j.ymgme.2014.01.002 · 2014 · External reference
Genetic variation within endolysosomal system is associated with late-onset Alzheimer's disease
10.1093/brain/awy197 · 2018 · External reference
Prevalence of dementia subtypes in United States Medicare fee-for-service beneficiaries, 2011-2013
10.1016/j.jalz.2016.04.002 · 2017 · External reference
Lysosomal LAMP1 immunoreactivity exists in both diffuse and neuritic amyloid plaques in the human hippocampus
10.1111/ejn.13913 · 2018 · External reference
Examination of intravenous and intra-CSF protein delivery for treatment of neurological disease
10.1111/j.1460-9568.2009.06666.x · 2009 · External reference
Microglia use TAM receptors to detect and engulf amyloid β plaques
10.1038/s41590-021-00913-5 · 2021 · External reference
Presynaptic localization of neprilysin contributes to efficient clearance of amyloid-beta peptide in mouse brain
10.1523/jneurosci.4792-03.2004 · 2004 · External reference
Intracellular accumulation of amyloidogenic fragments of amyloid-beta precursor protein in neurons with Niemann-Pick type C defects is associated with endosomal abnormalities
10.1016/s0002-9440(10)63185-9 · 2004 · External reference
Probiotics ameliorate intestinal pathophysiology in a mouse model of Alzheimer’s disease
10.1016/j.neurobiolaging.2020.04.009 · 2020 · External reference
Lysosomal dysfunction in a mouse model of Sandhoff disease leads to accumulation of ganglioside-bound amyloid-beta peptide
10.1523/jneurosci.4860-11.2012 · 2012 · External reference
Evidence that small molecule enhancement of beta-hexosaminidase activity corrects the behavioral phenotype in Dutch APP(E693Q) mice through reduction of ganglioside-bound Abeta
10.1038/mp.2014.135 · 2015 · External reference
Cortical distribution of gangliosides in Alzheimer’s disease
10.1016/0197-0186(92)90058-y · 1992 · External reference
Human brain gangliosides in development, aging and disease
1991 · External reference
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer’s disease
10.1038/ng.2802 · 2013 · External reference
Subtle behavioral changes and increased prefrontal-hippocampal network synchronicity in APPNL-G-F mice before prominent plaque deposition
10.1016/j.bbr.2017.11.017 · 2019 · External reference
Object recognition test in mice
10.1038/nprot.2013.155 · 2013 · External reference
Impaired ganglioside metabolism in Huntington’s disease and neuroprotective role of GM1
10.1523/jneurosci.6348-09.2010 · 2010 · External reference
Age-dependent behavioural and biochemical characterization of single APP knock-in mouse (APPNL-G-F/NL-G-F) model of Alzheimer’s disease
10.1016/j.neurobiolaging.2018.10.026 · 2019 · External reference
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
10.1111/j.1471-4159.2004.02849.x · 2005 · External reference
Open-field behavior of C57BL/6J mice: effect of illumination, age, and number of test days
10.3758/bf03335518 · 1970 · External reference
Abeta secretion and plaque formation depend on autophagy
10.1016/j.celrep.2013.08.042 · 2013 · External reference
Amyloid precursor protein and endosomal-lysosomal dysfunction in Alzheimer’s disease: inseparable partners in a multifactorial disease
10.1096/fj.201700359 · 2017 · External reference
Lysosomal system pathways: genes to neurodegeneration in Alzheimer’s disease
10.3233/jad-2006-9s331 · 2006 · External reference
Extensive involvement of autophagy in Alzheimer disease: an immuno-electron microscopy study
10.1093/jnen/64.2.113 · 2005 · External reference
Molecular heterogeneity in the infantile and juvenile forms of Sandhoff disease (O-variant GM2 gangliosidosis)
10.1016/s0021-9258(18)67145-5 · 1986 · External reference
10.1073/pnas.82.4.1184
10.1073/pnas.82.4.1184 · External reference
Defects in the medial entorhinal cortex and dentate gyrus in the mouse model of Sanfilippo syndrome type B
10.1371/journal.pone.0027461 · 2011 · External reference
A genetic variation of cathepsin D is a major risk factor for Alzheimer’s disease
10.1002/1531-8249(200003)47:3<399::aid-ana22>3.0.co;2-5 · 2000 · External reference
Unresolved reference
2001 · External reference
Positive association of the Cathepsin D Ala224Val gene polymorphism with the risk of Alzheimer’s disease
10.1097/maj.0000000000000555 · 2015 · External reference
Early etiology of Alzheimer’s disease: tipping the balance toward autophagy or endosomal dysfunction?
10.1007/s00401-014-1379-7 · 2015 · External reference
The autophagy-related protein beclin 1 shows reduced expression in early Alzheimer disease and regulates amyloid beta accumulation in mice
2008 · External reference
The cell biology of disease: lysosomal storage disorders: the cellular impact of lysosomal dysfunction
10.1083/jcb.201208152 · 2012 · External reference
Single App knock-in mouse models of Alzheimer’s disease
10.1038/nn.3697 · 2014 · External reference
Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism
10.1038/ng1095-170 · 1995 · External reference
Fiji: an open-source platform for biological-image analysis
10.1038/nmeth.2019 · 2012 · External reference
Novel Alzheimer risk genes determine the microglia response to amyloid-beta but not to TAU pathology
2020 · External reference
Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage
10.1016/j.ajhg.2012.04.021 · 2012 · External reference
GM2 gangliosidosis in a UK study of children with progressive neurodegeneration: 73 cases reviewed
10.1111/j.1469-8749.2011.04160.x · 2012 · External reference
Olfactory exposure to males, including men, causes stress and related analgesia in rodents
10.1038/nmeth.2935 · 2014 · External reference
Intraneuronal Alzheimer abeta42 accumulates in multivesicular bodies and is associated with synaptic pathology
10.1016/s0002-9440(10)64463-x · 2002 · External reference
Ultrastructural studies in Alzheimer’s presenile dementia
1964 · External reference
Performance of male and female C57BL/6J mice on motor and cognitive tasks commonly used in pre-clinical traumatic brain injury research
10.1089/neu.2015.3977 · 2016 · External reference
Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life
10.1097/gim.0b013e31802d8321 · 2007 · External reference
Lysosomal dysregulation in the murine App(NL-G-F/NL-G-F) model of Alzheimer’s disease
10.1016/j.neuroscience.2019.12.042 · 2020 · External reference
Reduction in open field activity in the absence of memory deficits in the App(NL-G-F) knock-in mouse model of Alzheimer’s disease
10.1016/j.bbr.2017.09.006 · 2018 · External reference
Endo-lysosomal and autophagic dysfunction: a driving factor in Alzheimer’s disease?
10.1111/jnc.13935 · 2017 · External reference
Clinical aspects and diagnosis
2004 · External reference
Multiple pathogenic proteins implicated in neuronopathic Gaucher disease mice
10.1093/hmg/ddu105 · 2014 · External reference
Defective macroautophagic turnover of brain lipids in the TgCRND8 Alzheimer mouse model: prevention by correcting lysosomal proteolytic deficits
10.1093/brain/awu278 · 2014 · External reference
Macroautophagy--a novel Beta-amyloid peptide-generating pathway activated in Alzheimer’s disease
10.1083/jcb.200505082 · 2005 · External reference
