Research

Research Articles

New Ways to Treat Specific Classes of ATM Mutations
Richard A. Gatti, M.D.
Distinguished Professor, Rebecca Smith Chair for A-T Research
Department of Pathology and Laboratory Medicine, UCLA School of Medicine

Now that we have finally been approved for funding our project to find better drugs for treating nonsense mutations, we can begin to address the other successful project in our laboratory that addresses patients with splicing mutations.  Splicing is a complicated process but is easiest to understand if one thinks about how film is spliced.  You cut out the parts of the footage that you don’t need so that what you see in the projected version will be only the ‘good stuff’.  Biology works the same way!

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Letter from Israel Ataxia-Telangiectasia: A "Systems Biology" View
Yosef Shiloh, Ph.D.
The A-T Laboratory, Department of Human Molecular Genetics
Sackler School of Medicine, Tel Aviv University

Our group studies the ATM protein, the product of the gene responsible for A-T. ATM is the master controller of a complex cellular system – the one that responds to DNA damage. When the DNA is damaged, especially by ionizing radiation, ATM immediately mobilizes an intricate network of cellular responses. The further we delve into this system, the more complex it becomes: genes are turned on and turned off, proteins are modified, produced or degraded at an accelerated rate, molecules change their location, cellular processes are enhanced or shut down… ATM is in charge of all these events, controlling them by inducing tiny chemical modifications in numerous proteins.

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Understanding ATM, Understanding A-T
Yosef Shiloh, Ph.D.
The A-T Laboratory, Department of Molecular Genetics and Biochemistry,
Sackler School of Medicine, Tel Aviv University Israel

In the summer of 1977, I had just obtained my M.Sc. degree in Human Genetics from the Hebrew University in Jerusalem and was thinking about possible subjects for my Ph.D. thesis. A chance encounter with an A-T family made me choose this devastating disease as the subject of my thesis.

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Progress on A-T Research
Richard A. Gatti, M.D.
Distinguished Professor, Rebecca Smith Chair for A-T Research
Department of Pathology and Laboratory Medicine, UCLA School of Medicine

Despite impressive progress over the past few years with diagnosing A-T and understanding the cellular functions of the protein, the major challenges confronting A-T researchers today are to understand how the neurological symptoms develop and how to reverse this development.

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