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Home › Research › Topics › dosage

dosage

80 studies tagged dosage, dated 1986-06-01 to 2026-08-06. Bibliography: BibTeX (.bib) · RIS (.ris)

Newest in this topic

  1. APP Dosage and Extracellular Domain Variants Drive Distinct Defects in Neurogenesis modeled in Down Syndrome iPS cells 2026-08-06
  2. Trisomy 21 cerebral organoids exhibit Alzheimer’s disease amyloid and apolipoprotein E co-pathologies 2026-07-07
  3. Prevalence of epilepsy and young-onset dementia in adults with intellectual disability: Contrasting Down syndrome and autism diagnoses 2026-06-15

Studies

80 studies carry this tag.

Date range

1986 to 2026

Top journals

  • Journal of Alzheimer's disease : JAD 4
  • bioRxiv 4
  • Alzheimer's & dementia : the journal of the Alzheimer's Association 3
  • Free radical biology & medicine 3
  • Mental retardation and developmental disabilities research reviews 3

59 journals in all.

Newest first, then by address. Each study has a usefulness score out of 100 (rubric version 4.0); tap a score to see what makes it up. Tags were assigned automatically from each study's title and summary. The same studies as a filter in the library.

  1. APP Dosage and Extracellular Domain Variants Drive Distinct Defects in Neurogenesis modeled in Down Syndrome iPS cells

    ⚠ Preprint — not yet peer-reviewed alzhub usefulness score 16 out of 100. bioRxiv 2026-08-06 Down syndrome and Alzheimer's

    The amyloid precursor protein (APP) is heavily studied as the source of amyloid beta in Alzheimer’s disease (AD), however, the complex functions of APP remain poorly understood, as does the impact of APP dosage on neurodevelopment.

  2. Trisomy 21 cerebral organoids exhibit Alzheimer’s disease amyloid and apolipoprotein E co-pathologies

    ⚠ Preprint — not yet peer-reviewed alzhub usefulness score 16 out of 100. bioRxiv 2026-07-07 Down syndrome and Alzheimer's

    Adults with Down syndrome (DS) develop Alzheimer’s disease (AD) brain pathology by age 40 due to triplication of the Amyloid Precursor Protein ( APP ) gene on chromosome 21.

  3. Prevalence of epilepsy and young-onset dementia in adults with intellectual disability: Contrasting Down syndrome and autism diagnoses

    ⚠ Preprint — not yet peer-reviewed alzhub usefulness score 16 out of 100. PsyArXiv 2026-06-15 Costs and economics

    Higher prevalence was observed in the ID group relative to the general population for epilepsy, young-onset ADRD, and their comorbidity.

  4. Leucettinib-21 decreases dosage effects of DYRK1A in human trisomy 21 iPSC-derived neural cells

    ⚠ Preprint — not yet peer-reviewed alzhub usefulness score 16 out of 100. bioRxiv 2026-02-05 Down syndrome and Alzheimer's

    Dysregulated expression and activity of DYRK1A, dual specificity tyrosine phosphorylation regulated kinase 1A, is a feature of several neurodevelopmental and neurodegenerative diseases, including Down syndrome, DYRK1A syndrome, autism spectrum disorders, Alzheimer’s disease, and Parkinson’s disease.

  5. Amyloid precursor protein dosage normalization rescues neurogenesis and Alzheimer’s Disease phenotypes associated with Down Syndrome

    ⚠ Preprint — not yet peer-reviewed alzhub usefulness score 16 out of 100. bioRxiv 2025-07-30 Down syndrome and Alzheimer's

    Down Syndrome (DS) is the most abundant genetic form of mental retardation.

  6. Altered Hepatic Metabolism in Down Syndrome

    ✓ Peer-reviewed alzhub usefulness score 48 out of 100. Cell reports 2025-05-31 Down syndrome and Alzheimer's

    Trisomy 21 (T21) gives rise to Down syndrome (DS), the most commonly occurring chromosomal abnormality in humans.

  7. Multiple morbidity across the lifespan in people with Down syndrome or intellectual disabilities: a population-based cohort study using electronic health records

    ✓ Peer-reviewed alzhub usefulness score 55 out of 100. The Lancet. Public health 2023-04-26 Digital health tools

    We comprehensively estimated the risk of multiple morbidity across the lifespan in people with Down syndrome compared with the general population and controls with other forms of intellectual disability.

  8. Association of biological sex with clinical outcomes and biomarkers of Alzheimer's disease in adults with Down syndrome

    ✓ Peer-reviewed alzhub usefulness score 62 out of 100. Brain communications 2023-03-17 Biomarkers

    We used within-group locally estimated scatterplot smoothing models to compare the trajectory of biomarker changes with age in females versus males, as well as by apolipoprotein ɛ4 carriership.

  9. Weight Loss and Alzheimer's Disease in Down Syndrome

    ✓ Peer-reviewed alzhub usefulness score 52 out of 100. Journal of Alzheimer's disease : JAD 2023 Brain scans and imaging

    Polynomial regressions indicated an 0.23 kg/m2 decrease in BMI per year beginning at age 36.5 years, which occurs alongside the period during which Aβ and tau increase and memory and mental status decline.

  10. Accelerated epigenetic aging in newborns with Down syndrome

    ✓ Peer-reviewed alzhub usefulness score 41 out of 100. Aging cell 2022-06-06 Genetics

    Accelerated aging is a hallmark of Down syndrome (DS), with adults experiencing early-onset Alzheimer's disease and premature aging of the skin, hair, and immune and endocrine systems.

  11. Patterns of Mixed Pathologies in Down Syndrome

    ✓ Peer-reviewed alzhub usefulness score 41 out of 100. Journal of Alzheimer's disease : JAD 2022 Brain tissue and pathology

    Tau and amyloid-β pathology was prevalent in all cases and compatible with that typically seen in AD with some subtle deviations.

  12. Altered cell and RNA isoform diversity in aging Down syndrome brains

    ✓ Peer-reviewed alzhub usefulness score 48 out of 100. Proceedings of the National Academy of Sciences of the United States of America 2021-11-23 Genetics

    Down syndrome (DS), trisomy of human chromosome 21 (HSA21), is characterized by lifelong cognitive impairments and the development of the neuropathological hallmarks of Alzheimer's disease (AD).

  13. Elevated soluble amyloid beta protofibrils in Down syndrome and Alzheimer's disease

    ✓ Peer-reviewed alzhub usefulness score 41 out of 100. Molecular and cellular neurosciences 2021-06-04 Clinical trials

    Down syndrome (DS) is caused by trisomy of chromosome 21, which leads to a propensity to develop amyloid β (Aβ) brain pathology in early adulthood followed later by cognitive and behavioral deterioration.

  14. Increased choroidal thickness in adults with Down syndrome

    ✓ Peer-reviewed alzhub usefulness score 59 out of 100. Alzheimer's & dementia (Amsterdam, Netherlands) 2021-03-17 Brain scans and imaging

    ChT was increased in people with DS (pwDS) compared to Ctrl.

  15. Evolution of neuroinflammation across the lifespan of individuals with Down syndrome

    ✓ Peer-reviewed alzhub usefulness score 48 out of 100. Brain : a journal of neurology 2020-12-01 Down syndrome and Alzheimer's

    Epidemiological and experimental studies suggest that a disease-aggravating neuroinflammatory process is present at preclinical stages of Alzheimer's disease.

  16. The Alzheimer's Biomarker Consortium-Down Syndrome: Rationale and methodology

    ✓ Peer-reviewed alzhub usefulness score 69 out of 100. Alzheimer's & dementia (Amsterdam, Netherlands) 2020-08-03 Down syndrome and Alzheimer's

    This represents the largest U.S.-based, multi-site, biomarker initiative of AD in DS.

  17. Lysosomal Dysfunction in Down Syndrome Is APP-Dependent and Mediated by APP-βCTF (C99)

    ✓ Peer-reviewed alzhub usefulness score 38 out of 100. The Journal of neuroscience : the official journal of the Society for Neuroscience 2019-05-01 Down syndrome and Alzheimer's

    Direct measurements of lysosomal pH uncovered a significant elevation (0.6 units) as a basis for slowed LC3 turnover and the inactivation of cathepsin D and other lysosomal hydrolases known to be unstable or less active when lysosomal pH is persistently elevated.

  18. Trisomy of human chromosome 21 enhances amyloid-β deposition independently of an extra copy of APP

    ✓ Peer-reviewed alzhub usefulness score 45 out of 100. Brain : a journal of neurology 2018-08-01 Down syndrome and Alzheimer's

    Down syndrome, caused by trisomy of chromosome 21, is the single most common risk factor for early-onset Alzheimer's disease.

  19. The age of onset and evolution of Braak tangle stage and Thal amyloid pathology of Alzheimer's disease in individuals with Down syndrome

    ✓ Peer-reviewed alzhub usefulness score 48 out of 100. Acta neuropathologica communications 2018-07-04 Down syndrome and Alzheimer's

    While post mortem studies have identified the major cell types and functional systems affected in Alzheimer's disease (AD) the initial sites and molecular characteristics of pathology are still unclear.

  20. Neurofilament light as a blood biomarker for neurodegeneration in Down syndrome

    ✓ Peer-reviewed alzhub usefulness score 60 out of 100. Alzheimer's research & therapy 2018-04-10 Biomarkers

    NF-L is a biomarker for neurodegeneration in DS with potential for use in future clinical trials to prevent or delay dementia.

  21. Mitochondrial dysfunction in down syndrome: molecular mechanisms and therapeutic targets

    ✓ Peer-reviewed alzhub usefulness score 41 out of 100. Molecular medicine (Cambridge, Mass.) 2018-03-15 Down syndrome and Alzheimer's

    Trisomy of chromosome 21 (TS21) is the most common autosomal aneuploidy compatible with postnatal survival with a prevalence of 1 in 700 newborns.

  22. Dysfunction of autophagy and endosomal-lysosomal pathways: Roles in pathogenesis of Down syndrome and Alzheimer's Disease

    ✓ Peer-reviewed alzhub usefulness score 38 out of 100. Free radical biology & medicine 2017-10-06 Down syndrome and Alzheimer's

    Individuals with Down syndrome (DS) have an increased risk of early-onset Alzheimer's Disease (AD), largely owing to a triplication of the APP gene, located on chromosome 21.

  23. Dendritic spine pathology and thrombospondin-1 deficits in Down syndrome

    ✓ Peer-reviewed alzhub usefulness score 39 out of 100. Free radical biology & medicine 2017-09-28 Disease mechanisms

    Abnormal dendritic spine structure and function is one of the most prominent features associated with neurodevelopmental disorders including Down syndrome (DS).

  24. Clinical aspects and biomarkers of Alzheimer's disease in Down syndrome

    ✓ Peer-reviewed alzhub usefulness score 38 out of 100. Free radical biology & medicine 2017-09-01 Biomarkers

    Alzheimer's disease (AD) may affect in excess of 90% of individuals with Down syndrome (DS) after age 60, due to duplication of the APP gene in trisomy of chromosome 21, with neuropathology that is comparable to Sporadic AD and Familial AD (FAD).

  25. Genetics of β-Amyloid Precursor Protein in Alzheimer's Disease

    ✓ Peer-reviewed alzhub usefulness score 38 out of 100. Cold Spring Harbor perspectives in medicine 2017-06-01 Down syndrome and Alzheimer's

    Alzheimer's disease (AD) is characterized neuropathologically by neuronal cell loss, extracellular neuritic plaques composed of β-amyloid (Aβ), and intracellular neurofibrillary tangles composed of hyperphosphorylated tau protein.

  26. Brain-predicted age in Down syndrome is associated with beta amyloid deposition and cognitive decline

    ✓ Peer-reviewed alzhub usefulness score 48 out of 100. Neurobiology of aging 2017-04-18 Digital health tools

    Individuals with Down syndrome (DS) are more likely to experience earlier onset of multiple facets of physiological aging.

  27. Down Syndrome, Partial Trisomy 21, and Absence of Alzheimer's Disease: The Role of APP

    ✓ Peer-reviewed alzhub usefulness score 43 out of 100. Journal of Alzheimer's disease : JAD 2017-01-01 Down syndrome and Alzheimer's

    Overexpression of the amyloid precursor protein (APP) gene on chromosome 21 in Down syndrome (DS) has been linked to increased brain amyloid levels and early-onset Alzheimer's disease (AD).

  28. Neuronal exosomes reveal Alzheimer's disease biomarkers in Down syndrome

    ✓ Peer-reviewed alzhub usefulness score 41 out of 100. Alzheimer's & dementia : the journal of the Alzheimer's Association 2016-10-15 Down syndrome and Alzheimer's

    These early increases in Aβ 1-42 , P-T181-tau, and P-S396-tau in individuals with DS may provide a basis for early intervention as targeted treatments become available.

  29. DYRK1A, a Dosage-Sensitive Gene Involved in Neurodevelopmental Disorders, Is a Target for Drug Development in Down Syndrome

    ✓ Peer-reviewed alzhub usefulness score 40 out of 100. Frontiers in behavioral neuroscience 2016-06-03 Down syndrome and Alzheimer's

    Down syndrome (DS) is one of the leading causes of intellectual disability, and patients with DS face various health issues, including learning and memory deficits, congenital heart disease, Alzheimer's disease (AD), leukemia, and cancer, leading to huge medical and social costs.

  30. Amyloid precursor protein-mediated endocytic pathway disruption induces axonal dysfunction and neurodegeneration

    ✓ Peer-reviewed alzhub usefulness score 36 out of 100. The Journal of clinical investigation 2016-04-11 Down syndrome and Alzheimer's

    The endosome/lysosome pathway is disrupted early in the course of both Alzheimer's disease (AD) and Down syndrome (DS); however, it is not clear how dysfunction in this pathway influences the development of these diseases.

  31. The importance of understanding individual differences in Down syndrome

    ✓ Peer-reviewed alzhub usefulness score 40 out of 100. F1000Research 2016-03-23 Down syndrome and Alzheimer's

    In this article, we first present a summary of the general assumptions about Down syndrome (DS) still to be found in the literature.

  32. The pattern of amyloid accumulation in the brains of adults with Down syndrome

    ✓ Peer-reviewed alzhub usefulness score 43 out of 100. Alzheimer's & dementia : the journal of the Alzheimer's Association 2015-09-09 Down syndrome and Alzheimer's

    PIB binding in DS, first appearing in striatum, began around age 40 and was strongly associated with dementia and cognitive decline.

  33. Evidence that the rab5 effector APPL1 mediates APP-βCTF-induced dysfunction of endosomes in Down syndrome and Alzheimer's disease

    ✓ Peer-reviewed alzhub usefulness score 43 out of 100. Molecular psychiatry 2015-07-21 Down syndrome and Alzheimer's

    β-Amyloid precursor protein (APP) and its cleaved products are strongly implicated in Alzheimer's disease (AD).

  34. "Down syndrome: an insight of the disease"

    ✓ Peer-reviewed alzhub usefulness score 40 out of 100. Journal of biomedical science 2015-06-11 Down syndrome and Alzheimer's

    Down syndrome (DS) is one of the commonest disorders with huge medical and social cost.

  35. Down syndrome: Cognitive and behavioral functioning across the lifespan

    ✓ Peer-reviewed alzhub usefulness score 36 out of 100. American journal of medical genetics. Part C, Seminars in medical genetics 2015-05-18 Down syndrome and Alzheimer's

    Individuals with Down syndrome (DS) commonly possess unique neurocognitive and neurobehavioral profiles that emerge within specific developmental periods.

  36. Obstructive sleep apnea in young infants with Down Syndrome evaluated in a Down Syndrome specialty clinic

    ✓ Peer-reviewed alzhub usefulness score 45 out of 100. American Journal of Medical Genetics Part A 2015-01-13 Risk factors

    Children with Down syndrome (DS) experience congenital and functional medical issues that predispose them to obstructive sleep apnea (OSA).

  37. Down syndrome and Alzheimer's disease: Common pathways, common goals

    ✓ Peer-reviewed alzhub usefulness score 52 out of 100. Alzheimer's & dementia : the journal of the Alzheimer's Association 2014-12-12 Down syndrome and Alzheimer's

    In the United States, estimates indicate there are between 250,000 and 400,000 individuals with Down syndrome (DS), and nearly all will develop Alzheimer's disease (AD) pathology starting in their 30s. With the current lifespan being 55 to 60 years, approximately 70% will develop dementia, and if their life expectancy continues to increase, the number of individuals developing AD will concomitantly increase.

  38. Nerve growth factor metabolic dysfunction in Alzheimer's disease and Down syndrome

    ✓ Peer-reviewed alzhub usefulness score 36 out of 100. Trends in pharmacological sciences 2014-06-21 Down syndrome and Alzheimer's

    Alzheimer's disease (AD) is a devastating neurodegenerative condition and the most common type of amnestic dementia in the elderly.

  39. A prospective 14-year longitudinal follow-up of dementia in persons with Down syndrome

    ✓ Peer-reviewed alzhub usefulness score 36 out of 100. Journal of intellectual disability research : JIDR 2013-07-31 Down syndrome and Alzheimer's

    The previously reported high risk levels for dementia among people with Down syndrome was confirmed in these data as was the value of the instruments utilised in tracking decline and helping to confirm diagnosis even in persons with severe intellectual disability.

  40. Maternal choline supplementation improves spatial learning and adult hippocampal neurogenesis in the Ts65Dn mouse model of Down syndrome

    ✓ Peer-reviewed alzhub usefulness score 36 out of 100. Neurobiology of disease 2013-04-30 Down syndrome and Alzheimer's

    In addition to intellectual disability, individuals with Down syndrome (DS) exhibit dementia by the third or fourth decade of life, due to the early onset of neuropathological changes typical of Alzheimer's disease (AD).

  41. The triple challenges associated with age-related comorbidities in Down syndrome

    ✓ Peer-reviewed alzhub usefulness score 52 out of 100. Journal of intellectual disability research : JIDR 2013-03-19 Risk factors

    Further detailed investigations into the development and treatment of comorbidities across the lifespan are needed for a successful longitudinal approach to healthcare in people with Down syndrome.

  42. Changes in mortality and causes of death in the Swedish Down syndrome population

    ✓ Peer-reviewed alzhub usefulness score 36 out of 100. American journal of medical genetics. Part A 2013-02-22 Down syndrome and Alzheimer's

    During the past few decades age at death for individuals with Down syndrome (DS) has increased dramatically.

  43. Adaptive downregulation of mitochondrial function in down syndrome

    ✓ Peer-reviewed alzhub usefulness score 36 out of 100. Cell metabolism 2013-01-01 Down syndrome and Alzheimer's

    Mitochondrial dysfunction and oxidative stress are common features of Down syndrome (DS).

  44. Atypical aging in Down syndrome

    ✓ Peer-reviewed alzhub usefulness score 52 out of 100. Developmental disabilities research reviews 2013-01-01 Down syndrome and Alzheimer's

    At present, there may be over 210,000 people with Down syndrome (DS) over the age of 55 in the United States (US) who have significant needs for augmented services due to circumstances related to ordinary and/or pathological aging.

  45. A human stem cell model of early Alzheimer's disease pathology in Down syndrome

    ✓ Peer-reviewed alzhub usefulness score 36 out of 100. Science translational medicine 2012-02-15 Down syndrome and Alzheimer's

    Human cellular models of Alzheimer's disease (AD) pathogenesis would enable the investigation of candidate pathogenic mechanisms in AD and the testing and developing of new therapeutic strategies.

  46. Neurological phenotypes for Down syndrome across the life span

    ✓ Peer-reviewed alzhub usefulness score 36 out of 100. Progress in brain research 2012-01-01 Digital health tools

    This chapter reviews the neurological phenotype of Down syndrome (DS) in early development, childhood, and aging.

  47. Molecular characterization of the translocation breakpoints in the Down syndrome mouse model Ts65Dn

    ✓ Peer-reviewed alzhub usefulness score 36 out of 100. Mammalian genome : official journal of the International Mammalian Genome Society 2011-09-28 Down syndrome and Alzheimer's

    Ts65Dn is a mouse model of Down syndrome: a syndrome that results from chromosome (Chr) 21 trisomy and is associated with congenital defects, cognitive impairment, and ultimately Alzheimer's disease.

  48. Perinatal choline supplementation improves cognitive functioning and emotion regulation in the Ts65Dn mouse model of Down syndrome

    ✓ Peer-reviewed alzhub usefulness score 36 out of 100. Behavioral neuroscience 2010-06-01 Down syndrome and Alzheimer's

    In addition to mental retardation, individuals with Down syndrome (DS) also develop the neuropathological changes typical of Alzheimer's disease (AD) and the majority of these individuals exhibit dementia.

  49. Systemic mitochondrial dysfunction and the etiology of Alzheimer's disease and down syndrome dementia

    ✓ Peer-reviewed alzhub usefulness score 36 out of 100. Journal of Alzheimer's disease : JAD 2010-01-01 Down syndrome and Alzheimer's

    Increasing evidence is implicating mitochondrial dysfunction as a central factor in the etiology of Alzheimer's disease (AD).

  50. Alzheimer's-related endosome dysfunction in Down syndrome is Abeta-independent but requires APP and is reversed by BACE-1 inhibition

    ✓ Peer-reviewed alzhub usefulness score 36 out of 100. Proceedings of the National Academy of Sciences of the United States of America 2009-12-28 Down syndrome and Alzheimer's

    An additional copy of the beta-amyloid precursor protein (APP) gene causes early-onset Alzheimer's disease (AD) in trisomy 21 (DS).

From across this tag

5 of the 80 studies in this tag, picked by a fixed rule (a hash of each study's address), not by score or date; each page of this list shows a different 5. The same 5 appear here every time.

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