PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins

Emma A. Hall, Michael S. Nahorski, Lyndsay M. Murray, Ranad Shaheen, Emma Perkins, Kosala N. Dissanayake, Yosua Kristaryanto, Ross A. Jones, Julie Vogt, Manon Rivagorda, Mark T. Handley, Girish R. Mali, Tooba Quidwai, Dinesh C. Soares, Margaret A. Keighren, Lisa McKie, Richard L. Mort, Noor Gammoh, Amaya Garcia-Munoz, Tracey DaveyMatthieu Vermeren, Diana Walsh, Peter Budd, Irene A. Aligianis, Eissa Faqeih, Alan J. Quigley, Ian J. Jackson, Yogesh Kulathu, Mandy Jackson, Richard R. Ribchester, Alex von Kriegsheim, Fowzan S. Alkuraya, C. Geoffrey Woods, Eamonn R. Maher, Pleasantine Mill

Research output: Contribution to journal › Article › peer-review

5 results
- Last Name(descending)

Noor Gammoh
- Edinburgh Cancer Research Centre
- School of Genetics and Cancer - Reader
Person: Academic: Research Active
Mandy Jackson
Person: Academic: Research Active
Ross Jones
- Deanery of Biomedical Sciences - Senior Lecturer
- Centre for Discovery Brain Sciences
- Euan MacDonald Centre for Motor Neuron Disease Research
- Edinburgh Neuroscience - Lecturer in Clinical/Surgical Anatomy
Person: Academic: Research Active
Pleasantine Mill
- MRC Human Genetics Unit
- School of Genetics and Cancer - Personal Chair of Cilia Biology
Person: Academic: Research Active , Academic: Research Active (Research Assistant)
Lyndsay Murray
- Deanery of Biomedical Sciences - Senior Lecturer in Anatomy
- Centre for Discovery Brain Sciences
- Edinburgh Neuroscience
- Euan MacDonald Centre for Motor Neuron Disease Research
Person: Academic: Research Active

PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins

Profiles

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Noor Gammoh

Mandy Jackson

Ross Jones

Pleasantine Mill

Lyndsay Murray