Author

Shamim Akhtar

University of Engineering and Technology Taxila

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Genetics· 1

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Approach:experimental assay· 1 Organism:human· 1 Research Focus:protein design· 1 Assay:protein sequence· 1 Research Focus:protein structure prediction· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

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Alexia Martínez de PaziD· 1 shared John B. VincentiD· 1 shared Juan AusióiD· 1 shared Taimoor I. SheikhiD· 1 shared

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2017-2017 · peak 1/yr

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Recent·Most cited

GeneticsHuman Molecular GeneticsPeer-reviewedJul 26, 2017

The role of N-terminal modification of MeCP2 in the pathophysiology of Rett syndrome

Taimoor I. Sheikh, Alexia Martínez de Paz, Shamim Akhtar…·John B. Vincent

This paper investigates N-terminal modifications of MeCP2 isoforms and their impact on protein degradation, showing that the p.Ala2Val mutation reduces protein stability and bioavailability in Rett syndrome.

28 citations

humanprotein sequence

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