T
Thomas J. Kwiatkowski
Researcher at Harvard University
Publications - 14
Citations - 6073
Thomas J. Kwiatkowski is an academic researcher from Harvard University. The author has contributed to research in topics: Amyotrophic lateral sclerosis & Spinocerebellar ataxia. The author has an hindex of 13, co-authored 14 publications receiving 5660 citations. Previous affiliations of Thomas J. Kwiatkowski include Baylor College of Medicine & Baylor University.
Papers
More filters
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
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.
Harry T. Orr,Ming Yi Chung,Sandro Banfi,Thomas J. Kwiatkowski,Antonio Servadio,Arthur L. Beaudet,Alanna E. McCall,Lisa A. Duvick,Laura P.W. Ranum,Huda Y. Zoghbi +9 more
TL;DR: There is a direct correlation between the size of the (CAG)n repeat expansion and the age–of–onset of SCA1, with larger alleles occurring in juvenile cases.
Journal ArticleDOI
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2.
Shinji Hadano,Collette K. Hand,Hitoshi Osuga,Yoshiko Yanagisawa,Asako Otomo,Rebecca S. Devon,Natsuki Miyamoto,Junko Showguchi-Miyata,Yoshinori Okada,Roshni R. Singaraja,Denise A. Figlewicz,Thomas J. Kwiatkowski,Betsy A. Hosler,Tally Lerman Sagie,Jennifer Skaug,Jamal Nasir,Jamal Nasir,Robert H. Brown,Stephen W. Scherer,Guy A. Rouleau,Michael R. Hayden,Joh-E Ikeda,Joh-E Ikeda +22 more
TL;DR: Two independent deletion mutations linked to ALS2 are identified in the coding exons of the new gene ALS2, providing strong evidence that ALS2 is the causative gene underlying this form of ALS.
Journal ArticleDOI
Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules.
Daryl A. Bosco,Nathan Lemay,Hae Kyung Ko,Hongru Zhou,Christopher J. Burke,Thomas J. Kwiatkowski,Peter C. Sapp,Diane McKenna-Yasek,Robert H. Brown,Lawrence J. Hayward +9 more
TL;DR: A novel ALS truncation mutant (R495X) is reported that leads to a relatively severe ALS clinical phenotype compared with FUS missense mutations, and a potential link between FUS mutations and cellular pathways involved in stress responses that may be relevant to altered motor neuron homeostasis in ALS is demonstrated.
Journal ArticleDOI
Identification and characterization of the gene causing type 1 spinocerebellar ataxia
Sandro Banfi,Antonio Servadio,Ming Yi Chung,Thomas J. Kwiatkowski,Alanna E. McCall,Lisa A. Duvick,Ying Shen,E. J. Roth,Harry T. Orr,Huda Y. Zoghbi +9 more
TL;DR: The identification and characterization of the gene harbouring a CAG trinucleotide repeat is described, suggesting that the transcriptional and translational regulation of ataxin–1, the SCA1 encoded protein, may be complex.