Sarah Gordon

Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder

Holly Melland, Fabian Bumbak, Anna Kolesnik-Taylor, Elise Ng-Cordell, Abinayah John, Panayiotis Constantinou, Shelagh Joss, Martin Larsen, Christina Fagerberg, Lone Walentin Laulund, Jenny Thies, Frances Emslie, Marjolein Willemsen, Tjitske Kleefstra, Rolf Pfundt, Rebekah Barrick, Richard Chang, Lucy Loong, Majid Alfadhel, Jasper van der Smagt, et al.

Journal article  |  2022  |  GENETICS IN MEDICINE

PURPOSE: Synaptotagmin-1 (SYT1) is a critical mediator of neurotransmitter release in the central nervous system. Previously repor..

Postsynaptic Neuroligin-1 Mediates Presynaptic Endocytosis During Neuronal Activity

Jiaqi Keith Luo, Holly Melland, Jess Nithianantharajah, Sarah L Gordon

Journal article  |  2021  |  FRONTIERS IN MOLECULAR NEUROSCIENCE

Fast, high-fidelity neurotransmission and synaptic efficacy requires tightly regulated coordination of pre- and postsynaptic compa..

Preface to the Special Issue "Presynaptic Dysfunction and Disease".

Karen J Smillie, Michael A Cousin, Sarah L Gordon

Journal article  |  2021  |  J Neurochem

The synapse is formed between a presynapse (which releases neurotransmitter) and the postsynapse (which transduces this chemical s..

Disorders of synaptic vesicle fusion machinery

Holly Melland, Elysa M Carr, Sarah L Gordon

Journal article  |  2020  |  JOURNAL OF NEUROCHEMISTRY

The revolution in genetic technology has ushered in a new age for our understanding of the underlying causes of neurodevelopmental..

Loss of huntingtin function slows synaptic vesicle endocytosis in striatal neurons from the httQ140/Q140 mouse model of Huntington's disease.

Robyn L McAdam, Andrew Morton, Sarah L Gordon, Julia F Alterman, Anastasia Khvorova, Michael A Cousin, Karen J Smillie

Journal article  |  2020  |  Neurobiol Dis

Huntington's disease (HD) is caused by CAG repeat expansion within the HTT gene, with the dysfunction and eventual loss of striata..

Misfolded alpha-synuclein causes hyperactive respiration without functional deficit in live neuroblastoma cells

Cathryn L Ugalde, Sarah J Annesley, Shane E Gordon, Katelyn Mroczek, Matthew A Perugini, Victoria A Lawson, Paul R Fisher, David I Finkelstein, Andrew F Hill

Journal article  |  2020  |  DISEASE MODELS & MECHANISMS

The misfolding and aggregation of the largely disordered protein, α-synuclein, is a central pathogenic event that occurs in the sy..

Synaptophysin sustains presynaptic performance by preserving vesicular synaptobrevin-II levels.

Alexandros C Kokotos, Callista B Harper, Jamie RK Marland, Karen J Smillie, Michael A Cousin, Sarah L Gordon

Journal article  |  2019  |  J Neurochem

The two most abundant molecules on synaptic vesicles (SVs) are synaptophysin and synaptobrevin-II (sybII). SybII is essential for ..

Altered synaptic vesicle recycling in huntington's disease

K Smillie, R McAdam, S Gordon, M Cousin

Conference Proceedings  |  2019  |  JOURNAL OF NEUROCHEMISTRY

Neurodevelopmental synaptopathies: presynaptic dysfunction in intellectual disability

S Gordon

Conference Proceedings  |  2019  |  JOURNAL OF NEUROCHEMISTRY

A distinct neurodevelopmental disorder is caused by mutations in synaptotagmin-1 that alter neurotransmitter release dynamics

H Melland, F Bumbak, SL Leech, DJ Scott, K Baker, SL Gordon

Conference Proceedings  |  2019  |  JOURNAL OF NEUROCHEMISTRY