K. Kinghorn

发表

Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders

Demis A. Kia, A. Ramasamy, C. Webber, 2020, Brain : a journal of neurology.

Polymerisation underlies alpha1-antitrypsin deficiency, dementia and other serpinopathies.

D. Lomas, D. Crowther, E. Miranda, 2004, Frontiers in bioscience : a journal and virtual library.

Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information

Sonja W. Scholz, Demis A. Kia, Miguel Ángel Martínez, 2020, Nature Communications.

Lithium Promotes Longevity through GSK3/NRF2-Dependent Hormesis

J. Thornton, L. Partridge, D. Ivanov, 2016, Cell reports.

Lithium Promotes Longevi ty through GSK 3 / NRF 2-Dependent Hormesis Graphical

J. Thornton, L. Partridge, D. Ivanov, 2016 .

Molecular mousetraps and the serpinopathies.

D. Lomas, D. Crowther, E. Miranda, 2005, Biochemical Society transactions.

Fine-tuning autophagy maximises lifespan and is associated with changes in mitochondrial gene expression in Drosophila

T. P. Neufeld, J. Thornton, L. Partridge, 2020, PLoS genetics.

Intraneuronal Abeta, non-amyloid aggregates and neurodegeneration in a Drosophila model of Alzheimer's disease.

D. Gubb, D. Lomas, D. Crowther, 2005, Neuroscience.

Practical genetics: alpha-1-antitrypsin deficiency and the serpinopathies

D. Lomas, D. Crowther, E. Miranda, 2004, European Journal of Human Genetics.

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1

Mark R. Marten, Erinna F. Lee, Dana L. Miller, 2021, Autophagy.

Hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations

P. Rich, M. Kaliakatsos, K. Kinghorn, 2012, Journal of Neurology.

Sugar and alcohol molecules provide a therapeutic strategy for the serpinopathies that cause dementia and cirrhosis

D. Lomas, J. Huntington, D. Crowther, 2006, The FEBS journal.

A triple drug combination targeting components of the nutrient-sensing network maximizes longevity

L. Partridge, Sebastian Grönke, T. Blackwell, 2019, Proceedings of the National Academy of Sciences.

Serpinopathies and the central nervous system

D. Lomas, D. Crowther, E. Miranda, 2004 .

Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies

Sonja W. Scholz, D. Hernandez, M. Nalls, 2019, The Lancet Neurology.

LRP10 in α-synucleinopathies

Sonja W. Scholz, D. Hernandez, M. Nalls, 2018, The Lancet Neurology.

A Drosophila Model of Neuronopathic Gaucher Disease Demonstrates Lysosomal-Autophagic Defects and Altered mTOR Signalling and Is Functionally Rescued by Rapamycin

L. Partridge, K. Mills, Sebastian Grönke, 2016, The Journal of Neuroscience.

Intraneuronal Aβ, non-amyloid aggregates and neurodegeneration in a Drosophila model of Alzheimer’s disease

Richard M. Page, D. Gubb, D. Lomas, 2005, Neuroscience.

Shifting equilibriums in Alzheimer’s disease: the complex roles of microglia in neuroinflammation, neuronal survival and neurogenesis

N. Woodling, K. Kinghorn, Sophie Gray, 2020, Neural regeneration research.

Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage

Sonja W. Scholz, Miguel Ángel Martínez, D. Hernandez, 2021, Nature Communications.

Agephagy – Adapting Autophagy for Health During Aging

R. Ketteler, I. Bjedov, K. Kinghorn, 2019, Front. Cell Dev. Biol..

Gba1 deletion causes immune hyperactivation and microbial dysbiosis through autophagic defects

M. Atilano, E. Ureña, Jacob Wildfire, 2022, bioRxiv.

Identification of sixteen novel candidate genes for late onset Parkinson’s disease

Sonja W. Scholz, Miguel Ángel Martínez, D. Hernandez, 2021, Molecular Neurodegeneration.

Genetics and pharmacology of longevity: the road to therapeutics for healthy aging.

I. Bjedov, K. Kinghorn, J. I. Castillo-Quan, 2015, Advances in genetics.

The emerging role of autophagic-lysosomal dysfunction in Gaucher disease and Parkinson's disease

K. Kinghorn, J. I. Castillo-Quan, A. Asghari, 2017, Neural regeneration research.

Mitochondrial dysfunction and defects in lipid homeostasis as therapeutic targets in neurodegeneration with brain iron accumulation

K. Kinghorn, J. I. Castillo-Quan, K. J. Kinghorn, 2016, Rare diseases.

Loss of PLA2G6 leads to elevated mitochondrial lipid peroxidation and mitochondrial dysfunction

J. Hardy, L. Partridge, K. Bhatia, 2015, Brain : a journal of neurology.

Neuroserpin Binds Aβ and Is a Neuroprotective Component of Amyloid Plaques in Alzheimer Disease*

D. Gubb, D. Lomas, J. Johansson, 2006, Journal of Biological Chemistry.

Therapeutic targets from a Drosophila model of Alzheimer's disease.

D. Lomas, D. Crowther, R. Page, 2004, Current opinion in pharmacology.

Investigation of Autosomal Genetic Sex Differences in Parkinson's Disease

Sonja W. Scholz, Miguel Ángel Martínez, D. Hernandez, 2021, medRxiv.

Misfolded PrP impairs the UPS by interaction with the 20S proteasome and inhibition of substrate entry

A. Goldberg, J. Collinge, S. Tabrizi, 2011, The EMBO journal.

Pathological looping in the synucleinopathies: investigating the link between Parkinson’s disease and Gaucher disease

K. Kinghorn, 2011, Disease Models & Mechanisms.

Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information

Sonja W. Scholz, Miguel Ángel Martínez, D. Hernandez, 2020, Nature Communications.

Loss of PLA 2 G 6 leads to elevated mitochondrial lipid peroxidation and mitochondrial dysfunction

J. Hardy, L. Partridge, K. Bhatia, 2015 .

Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson’s disease heritability

Sonja W. Scholz, Miguel Ángel Martínez, D. Hernandez, 2019, npj Parkinson's Disease.