D
Denise A. Figlewicz
Researcher at University of Rochester
Publications - 57
Citations - 5968
Denise A. Figlewicz is an academic researcher from University of Rochester. The author has contributed to research in topics: Amyotrophic lateral sclerosis & Gene. The author has an hindex of 29, co-authored 57 publications receiving 5777 citations. Previous affiliations of Denise A. Figlewicz include University of Michigan & University of Rochester Medical Center.
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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
Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis
Denise A. Figlewicz,Aldis Krizus,Maria G. Martinoli,Vincent Meininger,Michel Dib,Guy A. Rouleau,Jean-Pierre Julien +6 more
TL;DR: It is proposed that changes in the KSP-repeat domain may affect the cross-linking properties of the heavy neurofilaments subunit and perhaps contribute to the development of neurofilamentous swellings in motor neurons, a hallmark of ALS.
Journal ArticleDOI
Deleterious Variants of FIG4, a Phosphoinositide Phosphatase, in Patients with ALS
Clement Y. Chow,John Landers,John Landers,Sarah K. Bergren,Peter C. Sapp,Peter C. Sapp,Peter C. Sapp,Adrienne E. Grant,Julie M. Jones,Lesley Everett,Guy M. Lenk,Diane McKenna-Yasek,Diane McKenna-Yasek,Lois S. Weisman,Denise A. Figlewicz,Robert H. Brown,Robert H. Brown,Miriam H. Meisler +17 more
TL;DR: Heterozygosity for a deleterious allele of FIG4 appears to be a risk factor for ALS and PLS, extending the list of known ALS genes and increasing the clinical spectrum of FIG3-related diseases.
Journal ArticleDOI
Aggregation of mutant Cu/Zn superoxide dismutase proteins in a culture model of ALS
TL;DR: Aggregation of SOD-1 may contribute significantly to the death of motor neuron expressing mutations associated with FALS-1 and the mechanisms leading to aggregation may pertain to the specific vulnerability of motor neurons in this disease.
Journal ArticleDOI
Reduced transcriptional regulatory competence of the androgen receptor in X-linked spinal and bulbar muscular atrophy.
Anand N. Mhatre,Mark Trifiro,Mark Trifiro,Morris Kaufman,Morris Kaufman,P Kazemi-Esfarjani,P Kazemi-Esfarjani,Denise A. Figlewicz,Denise A. Figlewicz,Guy A. Rouleau,Guy A. Rouleau,Leonard Pinsky +11 more
TL;DR: It is found that a polyglutamine (Gln) expanded AR transactivates an androgen–responsive reporter gene subnormally and causes the AR to lose a function necessary for full androgen sensitivity and to gain a function that is selectively motor neuronotoxic.