Poulton, Joanna

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition).

Klionsky, D. J., Abdelmohsen, K., Abe, A., Abedin, M. J., Abeliovich, H., Acevedo Arozena, A., Adachi, H., Adams, C. M., Adams, P. D., Adeli, K., et al. (2016) · Autophagy

Autophagy in Disease and TherapyCalcium signaling and nucleotide metabolism

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

Klionsky, D. J., Abdel-Aziz, A. K., Abdelfatah, S., Abdellatif, M., Abdoli, A., Abel, S., Abeliovich, H., Abildgaard, M. H., Abudu, Y. P., Acevedo-Arozena, A., et al. (2021) · Autophagy

Autophagy in Disease and TherapyCalcium signaling and nucleotide metabolism

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Human mitochondrial DNA deletions associated with mutations in the gene encoding twinkle, a phage T7 gene 4-like protein localized in mitochondria

Spelbrink, J. N., Li, F.-Y., Tiranti, V., Nikali, K., Yuan, Q.-P., Tariq, M., Wanrooij, S., Garrido, N., Comi, G., Morandi, L., et al. (2001) · Nature Genetics

Mitochondrial Function and PathologyDNA Repair Mechanisms

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Evidence for 28 genetic disorders discovered by combining healthcare and research data

Kaplanis, J., Samocha, K. E., Wiel, L., Zhang, Z., Arvai, K. J., Eberhardt, R. Y., Gallone, G., Lelieveld, S. H., Martin, H. C., McRae, J. F., et al. (2020) · Nature

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

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Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number

Tyynismaa, H., Sembongi, H., Bokori-Brown, M., Granycome, C., Ashley, N., Poulton, J., Jalanko, A., Spelbrink, J. N., Holt, I. J., & Suomalainen, A. (2004) · Human Molecular Genetics

Mitochondrial Function and PathologyDNA Repair Mechanisms

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Decrease of 3243 A–>G mtDNA mutation from blood in MELAS syndrome: a longitudinal study

Rahman, S., Poulton, J., Marchington, D., & Suomalainen, A. (2001) · The American Journal of Human Genetics

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

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Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype

Sadleir, L. G., Mountier, E. I., Gill, D., Davis, S., Joshi, C., DeVile, C., Kurian, M. A., Study, F. T. D., Mandelstam, S., Wirrell, E., et al. (2017) · Neurology

Epilepsy research and treatmentIon channel regulation and function

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Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations

Liao, C., Ashley, N., Diot, A., Morten, K., Phadwal, K., Williams, A., Fearnley, I., Rosser, L., Lowndes, J., Fratter, C., et al. (2017) · Neurology

Autophagy in Disease and TherapyMitochondrial Function and Pathology

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Resistance of Dynamin-related Protein 1 Oligomers to Disassembly Impairs Mitophagy, Resulting in Myocardial Inflammation and Heart Failure

Cahill, T. J., Leo, V., Kelly, M., Stockenhuber, A., Kennedy, N. W., Bao, L., Cereghetti, G., Harper, A. R., Czibik, G., Lao, C., et al. (2015) · Journal of Biological Chemistry

Mitochondrial Function and PathologyAutophagy in Disease and Therapy

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Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

McRae, J. F., Clayton, S., Fitzgerald, T. W., Kaplanis, J., Prigmore, E., Rajan, D., Sifrim, A., Aitken, S., Akawi, N., Alvi, M., et al. (2016) · bioRxiv (Cold Spring Harbor Laboratory)

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

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The presence of a common mitochondrial DNA variant is associated with fasting insulin levels in Europeans in Auckland

Poulton, J., Bednarz, A. L., Scott‐Brown, M., Thompson, C., Macaulay, V. A., & Simmons, D. (2002) · Diabetic Medicine

Genetic Associations and EpidemiologyForensic and Genetic Research

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Resistance of dynamin-related protein 1 oligomers to disassembly impairs mitophagy, resulting in myocardial inflammation and heart failure

Cahill, T. J., Leo, V., Kelly, M., Stockenhuber, A., Kennedy, N. W., Bao, L., Cereghetti, G. M., Harper, A. R., Czibik, G., Liao, C., et al. (2016) · Journal of Biological Chemistry

Autophagy in Disease and TherapyMitochondrial Function and Pathology

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