Publications by authors named "Uzma Yaqub"

Background: Proper migration of neurons is essential for the formation and normal functioning of the nervous system. Defects in neuronal migration underlie a number of neurologic diseases in humans. Although cell migration is crucial for neural development, molecular mechanisms guiding neuronal migration remain to be elucidated fully.

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TorsinA is an AAA+ ATPase located within the lumen of the endoplasmic reticulum and nuclear envelope, with a mutant form causing early onset torsion dystonia (DYT1). Here we report a new function for torsinA in endoplasmic reticulum-associated degradation (ERAD). Retro-translocation and proteosomal degradation of a mutant cystic fibrosis transmembrane conductance regulator (CFTRΔF508) was inhibited by downregulation of torsinA or overexpression of mutant torsinA, and facilitated by increased torsinA.

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A case of 34 weeks pregnancy along with a large abdominal mass presented in emergency with a constant dull abdominal pain and premature labour. After delivery of the baby the dull ache persisted, prompting a laparotomy in the first postnatal week. A large cyst, arising from the left renal area and occupying almost the whole left side of the abdomen, was removed.

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