Varaico: Literature-Extracted Genetic Variants

Gene:PPT1
Variant:p.K60M
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PPT1

NM_000310.4:p.K60M

Associated Papers

Genetic studies in Drosophila and humans support a model for the concerted function of CISD2, PPT1 and CLN3 in disease.

Jones MA et al.

Biology Open, 2014

The Batten disease Palmitoyl Protein Thioesterase 1 gene regulates neural specification and axon connectivity during Drosophila embryonic development.

Chu-LaGraff Q et al.

Plos One, 2010

Identifying cellular pathways modulated by Drosophila palmitoyl-protein thioesterase 1 function.

Saja S et al.

Neurobiology of Disease, 2010

Palmitoyl-protein thioesterase 1 deficiency in Drosophila melanogaster causes accumulation of abnormal storage material and reduced life span.

Hickey AJ et al.

Genetics, 2006

Mutations in palmitoyl-protein thioesterase 1 alter exocytosis and endocytosis at synapses in Drosophila larvae.

Aby E et al.

Fly, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."