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Point mutation

Cooperative Nuclear Localization Sequences Lend a Novel Role to the N-Terminal Region of MSH6

Natalie R. Gassman, Jill E. Clodfelter, [ ... ], Karin D. Scarpinato

BAG3 Directly Interacts with Mutated alphaB-Crystallin to Suppress Its Aggregation and Toxicity

Akinori Hishiya, Mortada Najem Salman, [ ... ], Shinichi Takayama

A Combined Nucleic Acid and Protein Analysis in Friedreich Ataxia: Implications for Diagnosis, Pathogenesis and Clinical Trial Design

Francesco Saccà, Giorgia Puorro, [ ... ], Alessandro Filla

Copy Number Variation in Patients with Disorders of Sex Development Due to 46,XY Gonadal Dysgenesis

Stefan White, Thomas Ohnesorg, [ ... ], Andrew Sinclair

Genetic Analysis of the Functions and Interactions of Components of the LevQRST Signal Transduction Complex of Streptococcus mutans

Lin Zeng, Satarupa Das, Robert A. Burne

Functional Characterization of Human Cancer-Derived TRKB Mutations

Thomas R. Geiger, Ji-Ying Song, Aranzazu Rosado, Daniel S. Peeper

Efficient Nuclear Transport of Structurally Disturbed Cargo: Mutations in a Cargo Protein Switch Its Cognate Karyopherin

Susana R. Chaves, Jonathan S. Rosenblum

Dissection of Splicing Regulation at an Endogenous Locus by Zinc-Finger Nuclease-Mediated Gene Editing

Sandra Cristea, Philip D. Gregory, Fyodor D. Urnov, Gregory J. Cost

2-Hydroxyglutarate Production, but Not Dominant Negative Function, Is Conferred by Glioma-Derived NADP⁺-Dependent Isocitrate Dehydrogenase Mutations

Genglin Jin, Zachary J. Reitman, [ ... ], Hai Yan

Structural Analysis of Alkaline β-Mannanase from Alkaliphilic Bacillus sp. N16-5: Implications for Adaptation to Alkaline Conditions

Yueju Zhao, Yunhua Zhang, [ ... ], Yanhe Ma

Bifunctional Avidin with Covalently Modifiable Ligand Binding Site

Jenni Leppiniemi, Juha A. E. Määttä, [ ... ], Vesa P. Hytönen

Mammalian Frataxin: An Essential Function for Cellular Viability through an Interaction with a Preformed ISCU/NFS1/ISD11 Iron-Sulfur Assembly Complex

Stéphane Schmucker, Alain Martelli, [ ... ], Hélène Puccio

Crystal Structure of the Pyrazinamidase of Mycobacterium tuberculosis: Insights into Natural and Acquired Resistance to Pyrazinamide

Stéphanie Petrella, Nathalie Gelus-Ziental, [ ... ], Wladimir Sougakoff

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