Stefanie Stahl
National Institutes of Health
6 Papers
24 Citations
Stefanie Stahl is an academic researcher from National Institutes of Health. The author has contributed to research in topics: MCOLN1 & Mucolipidosis type IV. The author has an hindex of 6, co-authored 6 publications.
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Papers
Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel
Mei Sun,Ehud Goldin,Stefanie Stahl,John L. Falardeau,John C. Kennedy,James S. Acierno,Catherine Bove,Christine R. Kaneski,James W. Nagle,Matthew C. Bromley,Matthew W. Colman,Raphael Schiffmann,Susan A. Slaugenhaupt +12 more
TL;DR: The cloning of a novel transient receptor potential cation channel gene is reported and it is shown that this gene is mutated in patients with the disorder.
Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel
Malay K. Raychowdhury,Silvia González-Perrett,Nicolas Montalbetti,Gustavo A. Timpanaro,Bernard Chasan,Wolfgang H. Goldmann,Stefanie Stahl,Adele Cooney,Ehud Goldin,Horacio F. Cantiello +9 more
TL;DR: The data indicate that ML1 channel activity is regulated by a pH-dependent mechanism that is deficient in some MLIV causing mutations of the gene, and supports a novel role for cation channels in the acidification and normal endosomal function.
Aging accentuates and bone marrow transplantation ameliorates metabolic defects in Fabry disease mice
Toshio Ohshima,Raphael Schiffmann,Gary J. Murray,Jeffrey B. Kopp,Jane M. Quirk,Stefanie Stahl,Chi-Chao Chan,Patricia M. Zerfas,Jung-Hwa Tao-Cheng,Jerrold M. Ward,Roscoe O. Brady,Ashok B. Kulkarni +11 more
TL;DR: The progression of the disease with aging is characterized and the effects of bone marrow transplantation (BMT) on the phenotype are explored, suggesting that BMT may have a potential role in the management of patients with Fabry disease.
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Transfer of the human glucocerebrosidase gene into hematopoietic stem cells of nonablated recipients: successful engraftment and long-term expression of the transgene
Raphael Schiffmann,Jeffrey A. Medin,Jerrold M. Ward,Stefanie Stahl,Michele Cottler-Fox,Stefan Karlsson +5 more
TL;DR: It is concluded that multiple transplants of retrovirally transduced BM cells into nonablated recipients may be a safe and effective therapeutic modality for a number of genetic hematopoietic disorders.
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Cloning and characterization of the mouse Mcoln1 gene reveals an alternatively spliced transcript not seen in humans
John L. Falardeau,John C. Kennedy,James S. Acierno,Mei Sun,Stefanie Stahl,Ehud Goldin,Susan A. Slaugenhaupt +6 more
TL;DR: Mcoln1 is highly similar to MCOLN1, especially in the transmembrane domains and ion pore region, supporting the hypothesis that the protein is localized to these vesicle membranes.