Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Kenneth H. Fischbeck"'
Autor:
Kenneth H. Fischbeck, Angelo Poletti
Publikováno v:
Journal of Neurochemistry
Spinal muscular atrophy (SMA) is a severe autosomal recessive motor neuron disease caused by the loss of SMN1, which encodes a protein essential for motor neuron survival. SMA patients have one or more copies of an alternate SMN gene, SMN2, which is
Autor:
Aneesh Patankar, Alice B. Schindler, Joshua Amaya, Christopher Grunseich, Prisila Ramirez, Dongjun Li, Vivian G. Cheung, Jason A. Watts, Kenneth H. Fischbeck
Publikováno v:
Annals of Neurology
Objective To determine the clinical and molecular features in patients with amyotrophic lateral sclerosis 4 (ALS4) due to mutations in the senataxin (SETX) gene and to develop tools for evaluating SETX variants. Methods Our study involved 32 patients
Publikováno v:
Biochemistry and Biophysics Reports
Expansion of a polyglutamine-encoding trinucleotide CAG repeat in the androgen receptor (AR) to more than 37 repeats is responsible for the X-linked neuromuscular disease spinal and bulbar muscular atrophy (SBMA). Here we evaluated the effect of poly
Autor:
Kenneth H. Fischbeck, C. Bertelson, Louis M. Kunkel, Allen D. Roses, Margaret A. Pericak-Vance, Richard J. Bartlett, Anthony P. Monaco, William Middlesworth, J Aldridge, Chris Anne Colletti
The Duchenne muscular dystrophy (DMD) locus has been localized to the short arm of the human X chromosome (Xp21) by detection of structural abnormalities and by genetic linkage studies. A library highly enriched for human DNA from Xp21 was constructe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55f27d3a59146c9b71ab1c8cc48cfd2c
https://ora.ox.ac.uk/objects/uuid:bda1d37a-ef79-41d0-a27c-df22631130ce
https://ora.ox.ac.uk/objects/uuid:bda1d37a-ef79-41d0-a27c-df22631130ce
Autor:
Anthony Antonellis, Aimee Vester, Kenneth H. Fischbeck, Leslie G. Biesecker, Asim A. Beg, Stephan Züchner, Nisc Comparative Sequencing Program, Jeffery M. Vance, James R. Lupski, Ricardo H. Roda, Gisselle A. Vélez-Ruiz, Heather M. McLaughlin, Kevin Talbot, Garth A. Nicholson
Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed enzymes responsible for ligating amino acids to cognate tRNA molecules. Mutations in four genes encoding an ARS have been implicated in inherited peripheral neuropathy with an axonal pathol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96c8768ea696639506fb093cf4b01c1b
https://doi.org/10.1002/humu.22210
https://doi.org/10.1002/humu.22210
Autor:
Helen C. Miranda, Illana Gozes, Sara Parodi, Raul R. Gainetdinov, Diana Piol, María José Polanco, Maria Pennuto, Stefano Espinoza, Kenneth H. Fischbeck, Patricia M.-J. Lievens, Albert R. La Spada, Christopher Grunseich, Anna Rocchi, Tobias Jochum, Conor Stack, Fabio Sambataro, Mathilde Chivet, Andrea Contestabile, Andrew C.B. Cato, Andrew P. Lieberman
Publikováno v:
Science translational medicine. 8(370)
Spinobulbar muscular atrophy (SBMA) is an X-linked neuromuscular disease caused by polyglutamine (polyQ) expansion in the androgen receptor (AR) gene. SBMA belongs to the family of polyQ diseases, which are fatal neurodegenerative disorders mainly ca
Autor:
Tyler Lanman, Alan Bruzel, Nancy A. Edwards, Barbara J. Crain, Tanya J. Lehky, Alice B. Schindler, Ke-lian Chen, Kenneth H. Fischbeck, Jason A. Watts, Grzegorz Piszczek, Robert D. Guber, Zhengwei Zhu, Christopher Grunseich, Joshua T. Burdick, Abhik Ray-Chaudhury, Jianhua Yao, Isabel X. Wang, Vivian G. Cheung
Publikováno v:
Molecular Cell. 69:426-437.e7
R-loops are three-stranded nucleic acid structures found abundantly and yet often viewed as by-products of transcription. Studying cells from patients with a motor neuron disease (amyotrophic lateral sclerosis 4 [ALS4]) caused by a mutation in senata
Autor:
Juliane P. Caviston, Kenneth H. Fischbeck, Charlotte J. Sumner, Bernadette H. LaMonte, Srikanth Ranganathan, George G. Harmison, Imke Puls, Karen Wallace, Mariko Tokito, Lee A. Ligon, Jennifer R. Levy, Erika L.F. Holzbaur
Publikováno v:
The Journal of Cell Biology
The microtubule motor cytoplasmic dynein and its activator dynactin drive vesicular transport and mitotic spindle organization. Dynactin is ubiquitously expressed in eukaryotes, but a G59S mutation in the p150Glued subunit of dynactin results in the
Autor:
Kenneth H. Fischbeck, David A. Lynch
Publikováno v:
Lancet (London, England). 384(9942)
Friedreich’s ataxia is an autosomal recessive neurodegenerative disorder caused by mutations in the frataxin gene (FXN), leading to progressive ataxia, cardiomyopathy, scoliosis, and various other clinical features.1 Most patients have GAA repeat e
Autor:
Kristel Sleegers, Peter De Rijk, Tinne Ooms, LaTasha H. Lee, Kenneth H. Fischbeck, Biljana Ermanoska, Bob Asselbergh, Ricardo Leitão-Gonçalves, William W. Motley, Vincent Timmerman, Tanja A. Godenschwege, Albena Jordanova
Publikováno v:
Neurobiology of Disease, Vol 68, Iss, Pp 180-189 (2014)
Neurobiology of disease
Neurobiology of disease
Aminoacyl-tRNA synthetases are ubiquitously expressed proteins that charge tRNAs with their cognate amino acids. By ensuring the fidelity of protein synthesis, these enzymes are essential for the viability of every cell. Yet, mutations in six tRNA sy