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Genomes and Genes | Martin IngelssonSummaryAffiliation: Uppsala University Country: Sweden Publications
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Publications
No alteration in tau exon 10 alternative splicing in tangle-bearing neurons of the Alzheimer's disease brainMartin Ingelsson
Harvard Medical School, Massachusetts General Hospital, 114 16th Street, Charlestown, MA 02129, USA
Acta Neuropathol 112:439-49. 2006..In conclusion, this study indicated region-specific and possibly cell-type-specific tau splicing but did not lend any support to overt changes in alternative splicing of tau exon 10 being an underlying factor in AD pathogenesis...- Increase in the relative expression of tau with four microtubule binding repeat regions in frontotemporal lobar degeneration and progressive supranuclear palsy brainsMartin Ingelsson
Harvard Medical School, Massachusetts General Hospital, 114 16th Street, Charlestown, MA 02129, USA
Acta Neuropathol 114:471-9. 2007..In conclusion, we demonstrated increased but largely variable 4R tau/3R tau mRNA ratios in FTLD and PSP cases, suggesting heterogeneous pathophysiological processes within these disorders... - [Conformationally altered proteins cause neurodegenerative diseases]Martin Ingelsson
Geriatriska kliniken, AstraZeneca, Uppsala, Sweden
Lakartidningen 102:3542-3, 3545-6, 3549 passim. 2005..As of today, only symptomatic pharmacotherapies are available, but new insights into the underlying molecular mechanisms are providing strategies to prevent or even cure these devastating disorders... 
CALHM1 P86L polymorphism does not alter amyloid-beta or tau in cerebrospinal fluidVilmantas Giedraitis
Uppsala University, Department of Public Health Geriatrics, Rudbeck Laboratory, Uppsala, Sweden
Neurosci Lett 469:265-7. 2010..In conclusion, we found no evidence that CALHM1 P86L is associated with altered CSF levels of the investigated AD biomarkers...- Coordinated expression of caspase 8, 3 and 7 mRNA in temporal cortex of Alzheimer disease: relationship to formic acid extractable abeta42 levelsToshifumi Matsui
Alzheimer Research Unit, Mass General Institute for Neurodegenerative Disease, Massachusetts General Hospital, Charlestown, Massachusetts 02129, USA
J Neuropathol Exp Neurol 65:508-15. 2006..Thus, a principal caspase pathway from caspase-8 to caspase-3 and/or 7 may contribute to neuron loss in AD brain... 
Higher cathepsin B levels in plasma in Alzheimer's disease compared to healthy controlsJohan Sundelöf
Uppsala University, Department of Public Health Geriatrics, Uppsala, Sweden
J Alzheimers Dis 22:1223-30. 2010..Further investigation of cathepsin B as a predictor of AD is warranted...- Decreased levels of BDNF protein in Alzheimer temporal cortex are independent of BDNF polymorphismsJung Lee
Harvard Medical School, Massachusetts General Hospital, 114 16th Street, Charlestown, MA 02129, USA
Exp Neurol 194:91-6. 2005..The results suggest that the investigated BDNF polymorphisms are neither robust genetic risk factors nor determinants of BDNF protein levels in AD... - Rapid progression from mild cognitive impairment to Alzheimer's disease in subjects with elevated levels of tau in cerebrospinal fluid and the APOE epsilon4/epsilon4 genotypeElin S Blom
Section of Molecular Geriatrics, Department of Public Health, Uppsala University, Uppsala, Sweden
Dement Geriatr Cogn Disord 27:458-64. 2009..Here, we investigated these markers to assess their predictive value and influence on the rate of disease progression... - Expression of APP pathway mRNAs and proteins in Alzheimer's diseaseToshifumi Matsui
Alzheimer Disease Research Unit, MassGeneral Institute for Neurodegenerative Disease, Massachusetts General Hospital, Charlestown, MA 02129, USA
Brain Res 1161:116-23. 2007..These results suggest that altered transcription of APP in AD is proportionately associated with Abeta peptide, may occur in the context of gliosis, and may contribute to Abeta deposition in sporadic AD... - Cystatin C levels are positively correlated with both Abeta42 and tau levels in cerebrospinal fluid in persons with Alzheimer's disease, mild cognitive impairment, and healthy controlsJohan Sundelöf
Uppsala University, Department of Public Health Geriatrics, Uppsala, Sweden
J Alzheimers Dis 21:471-8. 2010..Interestingly, cystatin C levels were positively correlated with both tau and Abeta42 levels in CSF independent of age, gender, and APOE genotype... - Novel progranulin mutation detected in 2 patients with FTLDLena Skoglund
Molecular Geriatrics, Department of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden
Alzheimer Dis Assoc Disord 25:173-8. 2011..From the screening of these 51 FTLD patients, we could also identify the earlier reported mutation Gln130fs, and several coding sequence variants that are most likely nonpathogenic... - Single molecule profiling of tau gene expression in Alzheimer's diseaseChris Conrad
Department of Neurology, MassGeneral Institute for Neurodegenerative Disease MIND, Charlestown, Massachusetts, USA
J Neurochem 103:1228-36. 2007..Furthermore, splicing-based therapeutics is an emerging area of drug development, and a well-defined and quantitative assay for monitoring single-gene transcriptome will be relevant for such development... - Frontotemporal dementia in a large Swedish family is caused by a progranulin null mutationLena Skoglund
Department of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden
Neurogenetics 10:27-34. 2009..In conclusion, the PGRN Gly35fs mutation causes frontotemporal dementia with variable clinical presentation in a large Swedish family, most likely through nonsense-mediated decay of mutant PGRN mRNA and resulting haploinsufficiency... - The normal equilibrium between CSF and plasma amyloid beta levels is disrupted in Alzheimer's diseaseVilmantas Giedraitis
Department of Public Health Geriatrics, Uppsala University, Uppsala, Sweden
Neurosci Lett 427:127-31. 2007..Our findings suggest that the normal equilibrium between CSF and plasma Abeta may be disrupted with the initiation of amyloid deposition in the brain... - Plasma beta amyloid and the risk of Alzheimer disease and dementia in elderly men: a prospective, population-based cohort studyJohan Sundelöf
Uppsala University, Department of Public Health and Geriatrics, Uppsala Science Park, Dag Hammarskölds väg 14B, Uppsala, Sweden
Arch Neurol 65:256-63. 2008..Beta amyloid (Abeta) protein accumulates in the brains of individuals with Alzheimer disease (AD) and is detectable in cerebrospinal fluid and plasma... - Lack of association of the cholesterol 24-hydroxylase (CYP46) intron 2 polymorphism with Alzheimer's diseaseMartin Ingelsson
Harvard Medical School, Massachusetts General Hospital, 114 16th Street, Charlestown, MA 02129, USA
Neurosci Lett 367:228-31. 2004..Despite growing evidence implicating cholesterol metabolism in AD risk and Abeta generation, our data does not support a robust genetic relationship between the CYP46 intron 2 polymorphism and AD risk or neuropathology... - Large aggregates are the major soluble Aβ species in AD brain fractionated with density gradient ultracentrifugationDag Sehlin
Molecular Geriatrics, Department of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden
PLoS ONE 7:e32014. 2012.... - Alpha-synuclein and chaperones in dementia with Lewy bodiesIppolita Cantuti-Castelvetri
Massachusetts General Institute for Neurodegenerative Disease, Massachusetts General Hospital, Charlestown, Massachusetts 02129, USA
J Neuropathol Exp Neurol 64:1058-66. 2005..However, this reduced clearance cannot be attributed to a failure of chaperone expression, because their mRNA is unchanged or increased in the DLB brain... - Heparan sulfate accumulation with Abeta deposits in Alzheimer's disease and Tg2576 mice is contributed by glial cellsPaul O'Callaghan
Department of Public Health and Caring Sciences, Division of Molecular Geriatrics, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden
Brain Pathol 18:548-61. 2008..In mouse primary glial cultures, we observed increased levels of GPC1 and SDC3 following Abeta stimulation. These results suggest that HS codeposits with Abeta40 in neuritic plaques and is mainly derived from glial cells... - Genotyping of apolipoprotein E: comparative evaluation of different protocolsMartin Ingelsson
Harvard Medical School/Massachusetts General Hospital, Charlestown, Massachusetts, USA
Curr Protoc Hum Genet . 2003..The latter approaches also provide the flexibility to investigate other polymorphic disease markers... - Low prevalence of APP duplications in Swedish and Finnish patients with early-onset Alzheimer's diseaseElin S Blom
Section of Molecular Geriatrics, Department of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden
Eur J Hum Genet 16:171-5. 2008..No duplications of APP were identified, whereby we conclude that this is not a common cause of EOAD in the Swedish and Finnish populations, at least not in our collection of families and cases... - Family-based association between Alzheimer's disease and variants in UBQLN1Lars Bertram
Genetics and Aging Research Unit, MassGeneral Institute for Neurodegenerative Disease, Department of Neurology, Massachusetts General Hospital, Charlestown 02129, USA
N Engl J Med 352:884-94. 2005..The gene encoding ubiquilin 1 (UBQLN1) is one of several candidate genes for Alzheimer's disease located near a well-established linkage peak on chromosome 9q22... - The Arctic amyloid-β precursor protein (AβPP) mutation results in distinct plaques and accumulation of N- and C-truncated AβOla Philipson
Department of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden
Neurobiol Aging 33:1010.e1-13. 2012..Our findings are discussed in relation to mechanisms and relevance of amyloid formation and to the clinical features of AD... - Transcriptional and conformational changes of the tau molecule in Alzheimer's diseaseBradley T Hyman
Department of Neurology, Massachusetts General Hospital, 114 16th Street, Charlestown, MA 02129, USA
Biochim Biophys Acta 1739:150-7. 2005.... - Disordered proteins in dementiaMartin Ingelsson
Harvard Medical School, Massachusetts General Hospital, Charlestown 02129, USA
Ann Med 34:259-71. 2002..As of today, no efficient pharmacotherapies are available, but new insights into the underlying molecular mechanisms are providing strategies to prevent or even cure these devastating disorders... - Interference from heterophilic antibodies in amyloid-β oligomer ELISAsDag Sehlin
Department of Public Health and Caring Sciences Molecular Geriatrics, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden
J Alzheimers Dis 21:1295-301. 2010..Taken together, HA interference is a problem that needs to be addressed when measuring low levels of an antigen in human plasma and CSF samples... - Decreased catalytic activity of the insulin-degrading enzyme in chromosome 10-linked Alzheimer disease familiesMinji Kim
Genetics and Aging Research Unit, MassGeneral Institute for Neurodegenerative Disease, Massachusetts General Hospital, Charlestown, Massachusetts 02129, and Department of Molecular and Cellular Biochemistry, University of Kentucky, Lexington 40536, USA
J Biol Chem 282:7825-32. 2007.... - Clinical and neuropathological features of the arctic APP gene mutation causing early-onset Alzheimer diseaseHans Basun
Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Huddinge, Sweden
Arch Neurol 65:499-505. 2008..Most of these mutations may also cause cognitive impairment, but the Arctic APP mutation is the only known intra-beta-amyloid mutation to date causing the more typical clinical picture of Alzheimer disease... - No evidence of PGRN or MAPT gene dosage alterations in a collection of patients with frontotemporal lobar degenerationLena Skoglund
Molecular Geriatrics, Department of Public Health and Caring Sciences, Uppsala University, SE 751 85 Uppsala, Sweden
Dement Geriatr Cogn Disord 28:471-5. 2009..In this study, we investigated 39 patients with FTLD, previously found negative for mutations in PGRN and MAPT, for copy number alterations of these 2 genes... - Antibodies against alpha-synuclein reduce oligomerization in living cellsThomas Näsström
Rudbeck Laboratory, Department of Public Health Geriatrics, Uppsala University, Uppsala, Sweden
PLoS ONE 6:e27230. 2011.... - Transcriptional up-regulation and activation of initiating caspases in experimental glaucomaWei Huang
Howe Laboratory of Opthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA
Am J Pathol 167:673-81. 2005..These data suggest that elevated IOP activates a transcriptional up-regulation and activation of initiating caspases in RGCs and triggers apoptosis through both extrinsic and intrinsic caspase cascades... - APOE epsilon 3/ epsilon 4 heterozygotes have an elevated proportion of apolipoprotein E4 in cerebrospinal fluid relative to plasma, independent of Alzheimer's disease diagnosisHiroaki Fukumoto
Alzheimer Disease Research Unit, Massachusetts General Hospital East, B114 2010, 114 16th St, Charlestown, MA 02129, USA
Exp Neurol 183:249-53. 2003..However, the greater proportion of apoE4 in the cerebrospinal fluid suggests differential production or metabolism of the protein in the central nervous system (CNS), with the apoE4 isoform dominating... - The lipid peroxidation metabolite 4-oxo-2-nonenal cross-links alpha-synuclein causing rapid formation of stable oligomersTomas Näsström
Department of Public Health and Caring Sciences, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden
Biochem Biophys Res Commun 378:872-6. 2009..Despite prolonged incubation the oligomers did not continue to aggregate into a fibrillar state, thus suggesting that these alpha-synuclein species were not on a fibrillogenic pathway... - The Alzheimer's disease-associated amyloid beta-protein is an antimicrobial peptideStephanie J Soscia
Genetics and Aging Research Unit, Mass General Institute for Neurodegenerative Disease and Department of Neurology, Massachusetts General Hospital, Charlestown, Massachusetts, United States of America
PLoS ONE 5:e9505. 2010.... - Uniform polarity microtubule assemblies imaged in native brain tissue by second-harmonic generation microscopyDaniel A Dombeck
School of Applied and Engineering Physics, Cornell University, Ithaca, NY 14853, USA
Proc Natl Acad Sci U S A 100:7081-6. 2003..SHG imaging provides a tool to investigate the kinetics and function of MT ensemble polarity in dynamic native brain tissue structures and other subcellular motility structures based on polarized MTs... - Association study of cholesterol-related genes in Alzheimer's diseaseM Axel Wollmer
Division of Psychiatry Research, University of Zurich, August Forel Str 1, 8008 Zurich, Switzerland
Neurogenetics 8:179-88. 2007..004). We conclude that genetic variants investigated in this study may be associated with a moderate modification of the risk for AD in some samples...