BACKGROUND The ATP7A gene encodes the ATP7A protein, which is a trans-Golgi network copper transporter expressed in the brain and other organs. Mutations in this gene cause disorders of copper metabolism, such as Menkes disease. Here we describe the novel and unusual mutation (p.T1048I) in the ATP7A gene of a child with Menkes disease. The mutation affects a conserved DKTGT1048 phosphorylation ...

ii DEDICATION I dedicate this work to ……… To my parents For being great supporters in my journey To my dear wife, Ruba for her encouragement, moral support and understanding and To my beloved daughter, Larissa for her smile  when I was stressed up iii ACKNOWLEDGEMENTS I would like to take this opportunity to express my sincere gratitude and appreciation to my research supervisor, Associate Pro...

Recent studies of humans and rats show that neuronal firing patterns initiated by prior sensory stimulation, and even learning, can occur during sleep. But what they tell us about the functions of sleep remains unclear.

iii ACKNOWLEDGEMENTS I would like to express my deep appreciation to my thesis advisor, Prof. Ali Adibi for all his support, encouragement, and research directions. I would also like to thank my co-and Pablo for their technical helps. I had the pleasure of having useful discussions with and receiving technical helps and Arash for their helps and being there for me, when needed. I had the pleasu...

For most living things, 24,000 generations is a daunting span of time. Go back that many human generations, or about 500,000 years, and Homo sapiens had not yet evolved. Even for the fruit flies beloved of geneticists, 24,000 generations equals about 1500 years. But in Richard Lenski's laboratory at Michigan State University in East Lansing, 24,000 generations ago is a recent memory. The year w...

^He death of Herbert Lavington Evans, of Goring-on-Thames, April 9th, at the age of 65, due to acute pneumonia following ^fluenza is a grave sorrow to his old Bristol Medical School fiends. He was educated at Clifton College, UniversityCollege, Bristol, Edinburgh University and at Guy s Hospital. He was a Clinical Assistant at the Bristol Eye Hospital before he settled J1 Practice at Goring-on-...

2000 ii ACKNOWLEDGMENTS I would like to thank God, my parents, and my beloved sisters for their help and support throughout the development of this thesis. Special thanks go to the Fulbright Commission and the Institute of International Education for the continuous monetary support required to complete this work. Thanks to Dr. George for his suggestions, guidance, patience, and support. My grat...