• Publications
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Rapid cell-surface prion protein conversion revealed using a novel cell system
Prion diseases are fatal neurodegenerative disorders with unique transmissible properties. The infectious and pathological agent is thought to be a misfolded conformer of the prion protein. Little isExpand
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Small Changes, Big Impact
Huntington disease (HD) is a neurodegenerative disorder caused by an elongated polyglutamine tract in huntingtin (htt). htt normally undergoes different posttranslational modifications (PTMs),Expand
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Wild-type HTT modulates the enzymatic activity of the neuronal palmitoyl transferase HIP14.
Huntington disease (HD) is caused by polyglutamine expansion in the huntingtin (HTT) protein. Huntingtin-interacting protein 14 (HIP14), one of 23 DHHC domain-containing palmitoyl acyl transferasesExpand
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Putting proteins in their place: Palmitoylation in Huntington disease and other neuropsychiatric diseases
Post-translational modification of proteins by the lipid palmitate is critical for protein localization and function. Palmitoylation is regulated by the opposing enzymes palmitoyl acyltransferasesExpand
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Hip14l-deficient mice develop neuropathological and behavioural features of Huntington disease.
Palmitoylation, the dynamic post-translational addition of the lipid, palmitate, to proteins by Asp-His-His-Cys-containing palmitoyl acyltransferase (PAT) enzymes, modulates protein function andExpand
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Russell-Silver syndrome due to paternal H19/IGF2 hypomethylation in a patient conceived using intracytoplasmic sperm injection.
Epigenetic alterations at several maternal loci have been associated with imprinting disorders in children conceived using assisted reproductive technologies. To date, epimutations at paternal lociExpand
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Identification of Binding Sites in Huntingtin for the Huntingtin Interacting Proteins HIP14 and HIP14L
Huntington disease is an adult onset neurodegenerative disease characterized by motor, cognitive, and psychiatric dysfunction, caused by a CAG expansion in the HTT gene. Huntingtin InteractingExpand
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Huntingtin interacting proteins 14 and 14-like are required for chorioallantoic fusion during early placental development.
Huntington disease (HD) is an adult-onset neurodegenerative disease characterized by motor, cognitive, and psychiatric symptoms that is caused by a CAG expansion in the HTT gene. Palmitoylation isExpand
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Unraveling the genetic and molecular basis of posterior column ataxia and retinitis pigmentosa
  • L. Sutton
  • Medicine
  • Clinical genetics
  • 18 February 2011
Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa
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