Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Megan A. Griffey"'
Autor:
Catherine Kielar, Lucy Maddox, Ellen Bible, Charlie C. Pontikis, Shannon L. Macauley, Megan A. Griffey, Michael Wong, Mark S. Sands, Jonathan D. Cooper
Publikováno v:
Neurobiology of Disease, Vol 25, Iss 1, Pp 150-162 (2007)
Infantile neuronal ceroid lipofuscinosis (INCL) is caused by deficiency of the lysosomal enzyme, palmitoyl protein thioesterase 1 (PPT1). We have investigated the onset and progression of pathological changes in Ppt1 deficient mice (Ppt1−/−) and
Externí odkaz:
https://doaj.org/article/aa3203b030c6449b9cbd46d93157b0d1
Publikováno v:
Pediatric and Developmental Pathology. 11:185-192
Infantile neuronal ceroid lipofuscinosis (INCL), also known as Santavuori-Haltia disease, is an inherited neurodegenerative disorder caused by a mutation in the gene encoding the lysosomal enzyme palmitoyl-protein-thioesterase-1 (PPT1). Fatty acid–
Autor:
Robert H. Christenson, Mitchell G. Scott, Tie Q. Wei, Karl G. Hock, Show-Hong Duh, Megan A. Griffey, Daniel C. Kilgore
Publikováno v:
Clinica Chimica Acta. 384:48-51
Background Therapeutic drug monitoring for tacrolimus is important for organ transplant patients receiving this immunosuppressant. Current available assays for tacrolimus require sample pre-treatment and operate in a batch mode. Here a no-pretreatmen
Autor:
Steven M. Rothman, Mark S. Sands, Ellen Bible, Jonathan D. Cooper, Megan A. Griffey, David F. Wozniak, Kendra Johnson, Michael Wong, Annie E. Wentz
Publikováno v:
Molecular Therapy. 13(3):538-547
The neuronal ceroid lipofuscinoses (Batten disease) are a group of inherited neurodegenerative diseases characterized by the progressive intralysosomal accumulation of autofluorescent material in many cells, visual defects, seizures, cognitive defici
Autor:
Jonathan D. Cooper, Carole Vogler, Ellen Bible, Praveena Gupta, Megan A. Griffey, Mark S. Sands, Beth Levy
Publikováno v:
Neurobiology of Disease, Vol 16, Iss 2, Pp 360-369 (2004)
Infantile neuronal ceroid lipofuscinosis (INCL) is the earliest onset form of a class of inherited neurodegenerative disease called Batten disease. INCL is caused by a deficiency in the lysosomal enzyme palmitoyl protein thioesterase-1 (PPT1). Autofl
Autor:
Ellen Bible, Michael Wong, Catherine Kielar, Charlie C. Pontikis, Shannon L. Macauley, Jonathan D. Cooper, Lucy Maddox, Mark S. Sands, Megan A. Griffey
Publikováno v:
Neurobiology of Disease, Vol 25, Iss 1, Pp 150-162 (2007)
Infantile neuronal ceroid lipofuscinosis (INCL) is caused by deficiency of the lysosomal enzyme, palmitoyl protein thioesterase 1 (PPT1). We have investigated the onset and progression of pathological changes in Ppt1-deficient mice (Ppt1−/−) and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2de86d153890bcea21a23ef5a83594a4
https://europepmc.org/articles/PMC1866219/
https://europepmc.org/articles/PMC1866219/
Publikováno v:
Molecular therapy : the journal of the American Society of Gene Therapy. 12(3)
Infantile neuronal ceroid lipofuscinosis (INCL) is a neurodegenerative disorder caused by mutations in the gene encoding the lysosomal enzyme palmitoyl protein thioesterase-1 (PPT1). The earliest clinical sign in INCL is blindness, followed by seizur
Autor:
Mitchell G. Scott, Robert H. Christenson, Megan A. Griffey, Tie Q. Wei, Show-Hong Duh, Karl G. Hock, Daniel C. Kilgore
Publikováno v:
Clinica Chimica Acta. 388:235
Autor:
Jonathan D. Cooper, Steven M. Rothman, Michael Wong, Ellen Bible, Megan A. Griffey, David F. Wozniak, Carole Vogler, Matthew Richard Sands
Publikováno v:
Molecular Therapy. 9:S18
Batten Disease (Neuronal Ceroid Lipofuscinoses, NCL) refers to a group of inherited neurodegenerative disorders that primarily affect children. Affected children have a disease progression that consists of blindness, seizures, motor and metal decline