Associated Papers
Naturally Occurring Mutations to Muscle-Type Creatine Kinase Impact Its Canonical and Pharmacological Activities in a Substrate-Dependent Manner In Vitro.
Mosher EP et al.
Molecular Pharmacology, 2021
Identification of the Ferredoxin-Binding Site of a Ferredoxin-Dependent Cyanobacterial Nitrate Reductase.
Srivastava AP et al.
Biochemistry, 2017
Insights into structural network responsible for oligomerization and activity of bacterial virulence regulator caseinolytic protease P (ClpP) protein.
Gersch M et al.
The Journal of Biological Chemistry, 2012
Crystal structure and functional analysis of homocitrate synthase, an essential enzyme in lysine biosynthesis.
Bulfer SL et al.
The Journal of Biological Chemistry, 2009
A gamma 2(R43Q) mutation, linked to epilepsy in humans, alters GABAA receptor assembly and modifies subunit composition on the cell surface.
Frugier G et al.
The Journal of Biological Chemistry, 2007
Disease-associated mutations affect intracellular traffic and paracellular Mg2+ transport function of Claudin-16.
Kausalya PJ et al.
The Journal of Clinical Investigation, 2006
Why does fever trigger febrile seizures? GABAA receptor gamma2 subunit mutations associated with idiopathic generalized epilepsies have temperature-dependent trafficking deficiencies.
Kang JQ et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2006
A GABAA receptor mutation linked to human epilepsy (gamma2R43Q) impairs cell surface expression of alphabetagamma receptors.
Sancar F et al.
The Journal of Biological Chemistry, 2004
The GABAA receptor gamma2 subunit R43Q mutation linked to childhood absence epilepsy and febrile seizures causes retention of alpha1beta2gamma2S receptors in the endoplasmic reticulum.
Kang JQ et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2004
A new diagnostic test for VLCAD deficiency using immunohistochemistry.
Ohashi Y et al.
Neurology, 2004
Characterization of nuclease-dependent functions of Exo1p in Saccharomyces cerevisiae.
Tran PT et al.
Dna Repair, 2002
Binding of the PX domain of p47(phox) to phosphatidylinositol 3,4-bisphosphate and phosphatidic acid is masked by an intramolecular interaction.
Karathanassis D et al.
The Embo Journal, 2002
Functional importance of complex formation between the retinoblastoma tumor suppressor family and adenovirus E1A proteins as determined by mutational analysis of E1A conserved region 2.
Corbeil HB et al.
Journal of Virology, 1994
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