نتایج جستجو برای: neuroaxonal dystrophy

تعداد نتایج: 22776  

Journal: :Structure 2016
Fei Ye Wei Liu Yuan Shang Mingjie Zhang

The vast majority of PDZ domains are known to bind to a few C-terminal tail residues of target proteins with modest binding affinities and specificities. Such promiscuous PDZ/target interactions are not compatible with highly specific physiological functions of PDZ domain proteins and their targets. Here, we report an unexpected PDZ/target binding occurring between the scaffold protein inactiva...

2014
Giovanni Merolla Simone Cerciello Giuseppe Porcellini

PRINCIPAL INVESTIGATOR AND PROMOTER Giovanni Merolla Co-investigator: Giuseppe Porcellini Investigation performed at Biomechanics Laboratory "Marco Simoncelli", D. Cervesi Hospital, Cattolica - Italy PLAN OF CLINICAL INVESTIGATION (PCI): Version 1.0 of December 10, 2012 Approved by AV/IRST Ethical Committee (Comitato Etico Area Vasta Romagna) Reg. Sperimentazioni 914 Prot. N°: 1785/2013/I.5/46.

2014
Giovanni Merolla Giuseppe Porcellini

PRINCIPAL INVESTIGATOR AND PROMOTER Giovanni Merolla Co-investigator: Giuseppe Porcellini Investigation performed at the Biomechanics Laboratory "Marco Simoncelli", D. Cervesi Hospital, Cattolica - Italy PLAN OF CLINICAL INVESTIGATION (PCI): Version 1.0 of June 12, 2012 Approved by AV/IRST Ethical Committee (Comitato Etico Area Vasta Romagna) and authorized by AUSL RN ("Determina AUSL Rimini nu...

Journal: :Brain : a journal of neurology 2016
Michelle A Farrar Hooi Ling Teoh Susan Brammah Tony Roscioli Michael Cardamone

Mitochondrial dysfunction is increasingly being recognized as a therapeutic target in PLA26G-associated neurodegeneration (PLAN). We demonstrated in Drosophila and in human PLA2G6 mutant fibroblasts that loss of normal PLA2G6 activity is associated with increased mitochondrial lipid peroxidation and mitochondrial dysfunction. Furthermore, we identified the therapeutic benefits of deuterated pol...

2015
Kerstin Hahn Cecilia Rohdin Vidhya Jagannathan Peter Wohlsein Wolfgang Baumgärtner Frauke Seehusen Ingo Spitzbarth Rodrigo Grandon Cord Drögemüller Karin Hultin Jäderlund Matthew Seaman

Clinical, pathological and genetic examination revealed an as yet uncharacterized juvenile-onset neuroaxonal dystrophy (NAD) in Spanish water dogs. Affected dogs presented with various neurological deficits including gait abnormalities and behavioral deficits. Histopathology demonstrated spheroid formation accentuated in the grey matter of the cerebral hemispheres, the cerebellum, the brain ste...

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