Associated Papers
Disorders of synaptic vesicle fusion machinery.
Melland H et al.
Journal of Neurochemistry, 2021
Aggregation of mutant cysteine string protein-α via Fe-S cluster binding is mitigated by iron chelators.
Naseri NN et al.
Nature Structural & Molecular Biology, 2020
A Drosophila model of neuronal ceroid lipofuscinosis CLN4 reveals a hypermorphic gain of function mechanism.
Imler E et al.
Elife, 2019
The Role of Co-chaperones in Synaptic Proteostasis and Neurodegenerative Disease.
Gorenberg EL et al.
Frontiers in Neuroscience, 2017
Structural basis for the disruption of the cerebral cavernous malformations 2 (CCM2) interaction with Krev interaction trapped 1 (KRIT1) by disease-associated mutations.
Fisher OS et al.
The Journal of Biological Chemistry, 2015
Oligomerization of Cysteine String Protein alpha mutants causing adult neuronal ceroid lipofuscinosis.
Zhang YQ et al.
Biochimica Et Biophysica Acta, 2014
Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease.
Cadieux-Dion M et al.
Clinical Genetics, 2013
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