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Akademický článek

Beyond amyloid and tau: rethinking Alzheimer’s disease through less explored avenues

Autor: M. Gyimesi, R. K. Okolicsanyi, L. M. Haupt

Publikováno v: Open Biology, Vol 14, Iss 6 (2024)

Neurodegenerative diseases, particularly Alzheimer’s disease (AD), pose a significant challenge in ageing populations. Our current understanding indicates that the onset of toxic amyloid and tau protein pathologies initiates disease progression. Ho

Externí odkaz: https://doaj.org/article/4791c3aadd314098b7376ba2ec646166

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Akademický článek

Pedigree derived mutation rate across the entire mitochondrial genome of the Norfolk Island population

Autor: J. R. Connell, M. C. Benton, R. A. Lea, H. G. Sutherland, J. Chaseling, L. M. Haupt, K. M. Wright, L. R. Griffiths

Publikováno v: Scientific Reports, Vol 12, Iss 1, Pp 1-11 (2022)

Abstract Estimates of mutation rates for various regions of the human mitochondrial genome (mtGenome) vary widely, depending on whether they are inferred using a phylogenetic approach or obtained directly from pedigrees. Traditionally, only the contr

Externí odkaz: https://doaj.org/article/937c0613cd31451e86e2c2570d8384a1

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Akademický článek

Investigating diagnostic sequencing techniques for CADASIL diagnosis

Autor: P. J. Dunn, N. Maksemous, R. A. Smith, H. G. Sutherland, L. M. Haupt, L. R. Griffiths

Publikováno v: Human Genomics, Vol 14, Iss 1, Pp 1-10 (2020)

Abstract Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a cerebral small vessel disease caused by mutations in the NOTCH3 gene. Our laboratory has been undertaking genetic diagnostic testing fo

Externí odkaz: https://doaj.org/article/3a0e1e96f81c47cd97204a58fcae6d36

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Investigation of Mitochondrial Related Variants in a Cerebral Small Vessel Disease Cohort

Autor: P. J. Dunn, N. R. Harvey, N. Maksemous, R. A. Smith, H. G. Sutherland, L. M. Haupt, L. R. Griffiths

Publikováno v: Molecular neurobiology. 59(9)

Monogenic forms of cerebral small vessel disease (CSVD) can be caused by both variants in nuclear DNA and mitochondrial DNA (mtDNA). Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is known to have a phenotype similar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::560d9597c23e519b299c0cd0dd4a8e1a
https://pubmed.ncbi.nlm.nih.gov/35699875

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Pedigree derived mutation rate across the entire mitochondrial genome of the Norfolk Island population

Autor: J R, Connell, M C, Benton, R A, Lea, H G, Sutherland, J, Chaseling, L M, Haupt, K M, Wright, L R, Griffiths

Publikováno v: Scientific reports. 12(1)

Estimates of mutation rates for various regions of the human mitochondrial genome (mtGenome) vary widely, depending on whether they are inferred using a phylogenetic approach or obtained directly from pedigrees. Traditionally, only the control region

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ada9c648b5d53484e941d7e9ab7a4854
https://pubmed.ncbi.nlm.nih.gov/35473946

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Loss of chromosomal integrity in human mammary epithelial cells subsequent to escape from senescence

Autor: T D, Tlsty, S R, Romanov, B K, Kozakiewicz, C R, Holst, L M, Haupt, T, Tlsty

Publikováno v: Journal of mammary gland biology and neoplasia. 6(2)

The genomic changes that foster cancer can be either genetic or epigenetic in nature. Early studies focused on genetic changes and how mutational events contribute to changes in gene expression. These point mutations, deletions and amplifications are

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ae9f2740e9a0b5587626a2ce057a2a5d
https://pubmed.ncbi.nlm.nih.gov/11501583

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