Author

Shamim Akhtar

University of Engineering and Technology Taxila

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Biology Disciplines

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Genetics· 1

Signature Assays, Organisms & Methods

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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

Frequent Co-Authors

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

Activity by Year

2017-2017 · peak 1/yr

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4 top collaborators · 6 mutual co-author links

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1 shared paperGenetics

Alexia Martínez de PazORCID

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1 paper

Recent·Most cited

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

Taimoor I. Sheikh, Alexia Martínez de Paz, Shamim Akhtar, Juan Ausió, 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.

Human Molecular Genetics · Jul 26, 2017Peer-reviewedGenetics