D
Diane McKenna-Yasek
Researcher at Harvard University
Publications - 51
Citations - 8021
Diane McKenna-Yasek is an academic researcher from Harvard University. The author has contributed to research in topics: Amyotrophic lateral sclerosis & SOD1. The author has an hindex of 33, co-authored 51 publications receiving 7460 citations. Previous affiliations of Diane McKenna-Yasek include University of Massachusetts Amherst & University of Massachusetts Boston.
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Journal ArticleDOI
Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis.
Thomas J. Kwiatkowski,D. A. Bosco,D. A. Bosco,A. L. LeClerc,A. L. LeClerc,Eric Tamrazian,Charles R. Vanderburg,Carsten Russ,Carsten Russ,A. Davis,James M. Gilchrist,E. J. Kasarskis,Theodore L. Munsat,Paul N. Valdmanis,Guy A. Rouleau,Betsy A. Hosler,Pietro Cortelli,P. J. De Jong,Yuko Yoshinaga,Jonathan L. Haines,Margaret A. Pericak-Vance,Jianhua Yan,Nicola Ticozzi,Nicola Ticozzi,Nicola Ticozzi,Teepu Siddique,Diane McKenna-Yasek,Peter C. Sapp,Peter C. Sapp,H R Horvitz,John Landers,John Landers,Robert H. Brown,Robert H. Brown +33 more
TL;DR: Neuronal cytoplasmic protein aggregation and defective RNA metabolism thus appear to be common pathogenic mechanisms involved in ALS and possibly in other neurodegenerative disorders.
Journal ArticleDOI
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
Jing Liu,Masashi Aoki,Isabel Illa,Chenyan Wu,Michel Fardeau,Corrado Angelini,Carmen Serrano,J. Andoni Urtizberea,Fayçal Hentati,Mongi Ben Hamida,Saeed Bohlega,Edward J. Culper,Anthony A. Amato,K. Bossie,Joshua Oeltjen,Khemissa Bejaoui,Diane McKenna-Yasek,Betsy A. Hosler,Erwin Schurr,Kiichi Arahata,Pieter J. de Jong,Robert H. Brown +21 more
TL;DR: A 3-Mb P1-derived artificial chromosome contig spanning the MM candidate region clarified the order of genetic markers across the MM locus, provided five new polymorphic markers within it and narrowed the locus to approximately 2 Mb.
Journal ArticleDOI
Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS
Daryl A. Bosco,Gerardo Morfini,Gerardo Morfini,N. Murat Karabacak,Yuyu Song,Yuyu Song,François Gros-Louis,Piera Pasinelli,Holly Goolsby,Benjamin A. Fontaine,Nathan Lemay,Diane McKenna-Yasek,Matthew P. Frosch,Jeffrey N. Agar,Jean-Pierre Julien,Scott T. Brady,Scott T. Brady,Robert H. Brown +17 more
TL;DR: It is suggested that wild-type S OD1 can be pathogenic in SALS and an SOD1-dependent pathogenic mechanism common to FALS and SALS is identified.
Journal ArticleDOI
Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis.
Merit Cudkowicz,Diane McKenna-Yasek,P. E. Sapp,P. E. Sapp,Wendy Chin,Wendy Chin,Brian A. Geller,Brian A. Geller,Doug Hayden,David A. Schoenfeld,Betsy A. Hosler,H R Horvitz,Robert H. Brown +12 more
TL;DR: Information suggests it will be productive to investigate other genetic determinants in amyotrophic lateral sclerosis and to use epidemiological characteristics of the disease to help discern molecular mechanisms of motor neuron cell death.
Journal ArticleDOI
Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity.
Teepu Siddique,D. A. Figlewicz,D. A. Figlewicz,Margaret A. Pericak-Vance,Jonathan L. Haines,Guy A. Rouleau,Guy A. Rouleau,A. J. Jeffers,Peter C. Sapp,Peter C. Sapp,W. Y. Hung,J. L. Bebout,Diane McKenna-Yasek +12 more
TL;DR: The localization of a gene causing familial amyotrophic lateral sclerosis provides a means of isolating this gene and studying its function, and insight gained from understanding the function of this gene may be applicable to the design of rational therapy for both the familial and sporadic forms of the disease.