Zobrazeno 1 - 10
of 93
pro vyhledávání: '"Erik G. Puffenberger"'
Autor:
Katie B. Williams, Michael Horst, Millie Young, Christine Pascua, Erik G. Puffenberger, Karlla W. Brigatti, Claudia Gonzaga-Jauregui, Alan R. Shuldiner, Samuel Gidding, Kevin A. Strauss, Devyani Chowdhury
Publikováno v:
BMC Cardiovascular Disorders, Vol 22, Iss 1, Pp 1-10 (2022)
Abstract Background Familial hypercholesterolemia (FH) due to a founder variant in Apolipoprotein B (ApoBR3500Q) is reported in 12% of the Pennsylvania Amish community. By studying a cohort of ApoBR3500Q heterozygotes and homozygotes, we aimed to cha
Externí odkaz:
https://doaj.org/article/9c49f8e572984b1ebc9b773d2df4750c
Autor:
Zineb Ammous, Lettie E Rawlins, Hannah Jones, Joseph S Leslie, Olivia Wenger, Ethan Scott, Jim Deline, Tom Herr, Rebecca Evans, Angela Scheid, Joanna Kennedy, Barry A Chioza, Ryan M Ames, Harold E Cross, Erik G Puffenberger, Lorna Harries, Emma L Baple, Andrew H Crosby
Publikováno v:
PLoS Genetics, Vol 17, Iss 9, p e1009803 (2021)
SNIP1 (Smad nuclear interacting protein 1) is a widely expressed transcriptional suppressor of the TGF-β signal-transduction pathway which plays a key role in human spliceosome function. Here, we describe extensive genetic studies and clinical findi
Externí odkaz:
https://doaj.org/article/2f9a3a5365ad4563a237423cdb93c9ca
Autor:
Victor Murcia Pienkowski, Saima Riazuddin, Matthew J. Schultz, S. Amer Riazuddin, Foong-Yen Lim, Nicola Perrotti, Claudia Gonzaga-Jauregui, Muhammad A. Usmani, Zubair M. Ahmed, Hane Lee, Erik G. Puffenberger, Anneke J.A. Kievit, Tommaso Pippucci, Pamela Magini, Emma Colao, M. Mahdi Motazacker, Rebecca Hernan, Mureed Hussain, Karlla W. Brigatti, Wendy K. Chung, Matias Wagner, Marco Seri, Mohsin Shahzad, Brendan C. Lanpher, Zhiyv Niu, Karolina Matuszewska, Hans van Bokhoven, Faiza Rasheed, J. S. Klein Wassink-Ruiter, Kristen J. Rasmussen, Verena Kraus, Jessica Kianmahd, Julian A. Martinez-Agosto, Flavia Palombo, Rafał Płoski, Sheikh Riazuddin
Publikováno v:
American Journal of Human Genetics, 108, 1330-1341
American journal of human genetics, 108(7), 1330-1341. Cell Press
Am J Hum Genet
American Journal of Human Genetics, 108, 7, pp. 1330-1341
American Journal of Human Genetics, 108(7), 1330-1341. CELL PRESS
American Journal of Human Genetics, 108(7), 1330-1341. Cell Press
Am. J. Hum. Genet. 108, 1330-1341 (2021)
American journal of human genetics, 108(7), 1330-1341. Cell Press
Am J Hum Genet
American Journal of Human Genetics, 108, 7, pp. 1330-1341
American Journal of Human Genetics, 108(7), 1330-1341. CELL PRESS
American Journal of Human Genetics, 108(7), 1330-1341. Cell Press
Am. J. Hum. Genet. 108, 1330-1341 (2021)
Adaptor protein (AP) complexes mediate selective intracellular vesicular trafficking and polarized localization of somatodendritic proteins in neurons. Disease-causing alleles of various subunits of AP complexes have been implicated in several herita
Autor:
Cole J. Ferguson, Olivia Urso, Tatyana Bodrug, Brandon M. Gassaway, Edmond R. Watson, Jesuraj R. Prabu, Pablo Lara-Gonzalez, Raquel C. Martinez-Chacin, Dennis Y. Wu, Karlla W. Brigatti, Erik G. Puffenberger, Cora M. Taylor, Barbara Haas-Givler, Robert N. Jinks, Kevin A. Strauss, Arshad Desai, Harrison W. Gabel, Steven P. Gygi, Brenda A. Schulman, Nicholas G. Brown, Azad Bonni
Publikováno v:
Mol Cell
Neurodevelopmental cognitive disorders provide insights into mechanisms of human brain development. Here, we report an intellectual disability syndrome caused by the loss of APC7, a core component of the E3 ubiquitin ligase anaphase promoting complex
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32ad0480e0b0e927001ea091afcbd10e
https://europepmc.org/articles/PMC8741739/
https://europepmc.org/articles/PMC8741739/
Autor:
Stephanie Chopko, Millie Young, Vincent J Carson, George V. Mazariegos, Jennifer Hailey, Cora M. Taylor, Barbara Haas-Givler, Karlla W. Brigatti, KaLynn K. Loeven, Erik G. Puffenberger, Adam D. Heaps, Keturah Beiler, Ashlin S. Rodrigues, Kyle Soltys, Emilie R. Muelly, Kevin A. Strauss, Lauren E. Bowser, Zachary Radcliff, Christine Hendrickson, Katie B. Williams, Diana A. Shellmer, D. Holmes Morton, Donna L. Robinson
Publikováno v:
Molecular Genetics and Metabolism. 129:193-206
Over the past three decades, we studied 184 individuals with 174 different molecular variants of branched-chain α-ketoacid dehydrogenase activity, and here delineate essential clinical and biochemical aspects of the maple syrup urine disease (MSUD)
Autor:
Vincent J Carson, James E. Squires, Millie Young, Hendrik J. Vreman, Charles E. Ahlfors, George V. Mazareigos, Kevin A. Strauss, Lauren E. Bowser, Erik G. Puffenberger, Kyle Soltys, Patrick J. McKiernan, Michael D Fox, Karlla W. Brigatti
Publikováno v:
Hepatology
BACKGROUND AND AIMS: We describe the pathophysiology, treatment, and outcome of Crigler-Najjar type 1 syndrome (CN1) in 28 UGT1A1 c.222C>A homozygotes followed for 520 aggregate patient-years. APPROACH AND RESULTS: Unbound (“free”) bilirubin (B(f
Autor:
Hannah Jones, Tom Herr, Lorna W. Harries, Erik G. Puffenberger, Rebecca Evans, Harold E. Cross, Olivia Wenger, Angela Scheid, Ethan M. Scott, Jim Deline, Joanna Kennedy, Emma L. Baple, Lettie E. Rawlins, Zineb Ammous, Ryan M. Ames, Joseph S Leslie, Andrew H. Crosby, Barry A. Chioza
Publikováno v:
PLoS Genetics, Vol 17, Iss 9, p e1009803 (2021)
PLoS Genetics
PLoS Genetics
SNIP1 (Smad nuclear interacting protein 1) is a widely expressed transcriptional suppressor of the TGF-β signal-transduction pathway which plays a key role in human spliceosome function. Here, we describe extensive genetic studies and clinical findi
Autor:
Erik G. Puffenberger
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 185(11)
Founder populations have long contributed to our knowledge of rare disease genes and phenotypes. From the pioneering work of Dr. Victor McKusick to today, research in these groups has shed light on rare recessive phenotypes, expanded the clinical spe
Autor:
Millie Young, Kazuhiro Aoki, Donna L. Robinson, Christine Hendrickson, Lauren E. Bowser, Zineb Ammous, Adam D. Heaps, Olivia Wenger, Ethan M. Scott, Vincent J Carson, Kevin A. Strauss, Teresa Moser, Jonathan Salvin, James Deline, Steven Gottlieb, Erik G. Puffenberger, Thierry Morlet, Karlla W. Brigatti, Michael Tiemeyer
Publikováno v:
Molecular Genetics and Metabolism. 126:475-488
GM3 synthase, encoded by ST3GAL5, initiates synthesis of all downstream cerebral gangliosides. Here, we present biochemical, functional, and natural history data from 50 individuals homozygous for a pathogenic ST3GAL5 c.862C>T founder allele (median
Autor:
Kevin A. Strauss, Erik G. Puffenberger, Vincent J Carson, Christine Hendrickson, Freeman Miller, Donna L. Robinson, Karlla W. Brigatti, Michael D Fox, Millie Young, William Mackenzie, Robert M. Reed
Publikováno v:
Journal of Pediatric Orthopedics
Supplemental Digital Content is available in the text.
Background: Many patients with spinal muscular atrophy (SMA) who might benefit from intrathecal antisense oligonucleotide (nusinersen) therapy have scoliosis or spinal fusion that precludes
Background: Many patients with spinal muscular atrophy (SMA) who might benefit from intrathecal antisense oligonucleotide (nusinersen) therapy have scoliosis or spinal fusion that precludes