Publications by authors named "Emma M Perkins"

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Automated gait analysis indicates efficacy of T-type calcium channel inhibition for mitigation of disrupted calcium signalling in an SCA5 mouse model.
Daumante Suminaite, Nurul Fatihah Talib, Sophie Jane Pettegree, Han Chew Gaelan Tan, Yvonne Louise Odey, Emma Margaret Perkins

Sci Rep· July 2025

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Transactive response DNA-binding protein-43 proteinopathy in oligodendrocytes revealed using an induced pluripotent stem cell model.
Samantha K Barton, Dario Magnani, Owen G James, Matthew R Livesey, Bhuvaneish T Selvaraj, Emma M Perkins

Brain Commun· October 2021

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Altered network properties in C9ORF72 repeat expansion cortical neurons are due to synaptic dysfunction.
Emma M Perkins, Karen Burr, Poulomi Banerjee, Arpan R Mehta, Owen Dando

Mol Neurodegener· March 2021

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Generation of pure monocultures of human microglia-like cells from induced pluripotent stem cells.
Poulomi Banerjee, Evdokia Paza, Emma M Perkins, Owen G James, Boyd Kenkhuis

Stem Cell Res· December 2020

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MTSS1/Src family kinase dysregulation underlies multiple inherited ataxias.
Alexander S Brown, Pratap Meera, Banu Altindag, Ravi Chopra, Emma M Perkins

Proc Natl Acad Sci U S A· December 2018

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Loss of cerebellar glutamate transporters EAAT4 and GLAST differentially affects the spontaneous firing pattern and survival of Purkinje cells.
Emma M Perkins, Yvonne L Clarkson, Daumante Suminaite, Alastair R Lyndon, Kohichi Tanaka

Hum Mol Genet· August 2018

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C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca-permeable AMPA receptor-mediated excitotoxicity.
Bhuvaneish T Selvaraj, Matthew R Livesey, Chen Zhao, Jenna M Gregory, Owain T James, Emma M Perkins

Nat Commun· January 2018

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Posterior cerebellar Purkinje cells in an SCA5/SPARCA1 mouse model are especially vulnerable to the synergistic effect of loss of β-III spectrin and GLAST.
Emma M Perkins, Daumante Suminaite, Yvonne L Clarkson, Sin Kwan Lee, Alastair R Lyndon

Hum Mol Genet· October 2016

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De novo point mutations in patients diagnosed with ataxic cerebral palsy.
Ricardo Parolin Schnekenberg, Emma M Perkins, Jack W Miller, Wayne I L Davies, Maria Cristina D'Adamo

Brain· July 2015

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β-III spectrin underpins ankyrin R function in Purkinje cell dendritic trees: protein complex critical for sodium channel activity is impaired by SCA5-associated mutations.
Yvonne L Clarkson, Emma M Perkins, Callum J Cairncross, Alastair R Lyndon, Paul A Skehel

Hum Mol Genet· July 2014

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Control of synaptic vesicle endocytosis by an extracellular signalling molecule.
Karen J Smillie, Jonathan Pawson, Emma M Perkins, Mandy Jackson, Michael A Cousin

Nat Commun· April 2014

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β-III spectrin is critical for development of purkinje cell dendritic tree and spine morphogenesis.
Yuanzheng Gao, Emma M Perkins, Yvonne L Clarkson, Steven Tobia, Alastair R Lyndon

J Neurosci· November 2011

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Beta-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi.
Yvonne L Clarkson, Trudi Gillespie, Emma M Perkins, Alastair R Lyndon, Mandy Jackson

Hum Mol Genet· September 2010

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Loss of beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans.
Emma M Perkins, Yvonne L Clarkson, Nancy Sabatier, David M Longhurst, Christopher P Millward

J Neurosci· April 2010

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A TASK-like pH- and amine-sensitive 'leak' K+ conductance regulates neonatal rat facial motoneuron excitability in vitro.
Philip M Larkman, Emma M Perkins

Eur J Neurosci· February 2005

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