A
A A Welcher
Researcher at Stanford University
Publications - 10
Citations - 1987
A A Welcher is an academic researcher from Stanford University. The author has contributed to research in topics: Myelin & Peripheral myelin protein 22. The author has an hindex of 9, co-authored 10 publications receiving 1952 citations. Previous affiliations of A A Welcher include Amgen.
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Journal ArticleDOI
The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A.
Pragna Patel,Benjamin B. Roa,A A Welcher,A A Welcher,Schoener-Scott R,Barbara J. Trask,Liu Pentao,G J Snipes,Carlos A. Garcia,Uta Francke,Eric M. Shooter,Lupski,Ueli Suter +12 more
TL;DR: It is suggested that a gene dosage effect involving PMP–22 is at least partially responsible for the demyelinating neuropathy seen in CMT1A.
Journal ArticleDOI
Trembler mouse carries a point mutation in a myelin gene.
Ueli Suter,A A Welcher,A A Welcher,Tayfun Ozcelik,G J Snipes,Bela Kosaras,Uta Francke,Susan Billings-Gagliardi,Richard L. Sidman,Eric M. Shooter +9 more
TL;DR: The results identify the PMP-22 gene as a likely candidate for the mouse trembler locus and will encourage the search for mutations in the corresponding human gene in pedigrees with hypertrophic neuropathies such as Charcot–Marie–Tooth9 and Dejerine–Sottas10 diseases.
Journal ArticleDOI
Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13)
TL;DR: The name Peripheral Myelin Protein-22 (PMP-22) is proposed for the proteins and cDNA previously designated PASII, SR13, and gas3 that is apparently exclusively expressed in the peripheral nervous system where it is a major component of myelin.
Journal ArticleDOI
A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse.
Ueli Suter,J J Moskow,A A Welcher,G J Snipes,B Kosaras,Richard L. Sidman,A M Buchberg,Eric M. Shooter +7 more
TL;DR: The hypothesis that mutations in the Pmp-22 gene can lead to heterogeneous forms of peripheral neuropathies and offer clues toward possible explanations for the dominant inheritance of these disorders is strengthened.
Journal ArticleDOI
A myelin protein is encoded by the homologue of a growth arrest-specific gene.
TL;DR: A rat cDNA is isolated, SR13, which is strongly downregulated in the initial phase after sciatic nerve injury and encodes a glycoprotein that shares striking amino acid similarity with a purified myelin protein and is specifically precipitated by a myelin-specific antiserum.