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Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect

Journal article
Authors J Senderek
JS Muller
M Dusl
TM Strom
V Guergueltcheva
I Diepolder
SH Laval
S Maxwell
J Cossins
S Krause
N Muelas
JJ Vilchez
J Colomer
CJ Mallebrera
A Nascimento
S Nafissi
A Kariminejad
Y Nilipour
B Bozorgmehr
H Najmabadi
C Rodolico
JP Sieb
OK Steinlein
B Schlotter
B Schoser
J Kirschner
R Herrmann
T Voit
Anders Oldfors
C Lindbergh
A Urtizberea
M von der Hagen
A Hubner
J Palace
K Bushby
V Straub
D Beeson
A Abicht
H Lochmuller
Published in American journal of human genetics
Volume 88
Issue 2
Pages 162-172
ISSN 0002-9297
Publication year 2011
Published at Institute of Biomedicine, Department of Pathology
Pages 162-172
Language en
Subject categories Basic Medicine


Neuromuscular junctions (NMJs) are synapses that transmit impulses from motor neurons to skeletal muscle fibers leading to muscle contraction. Study of hereditary disorders of neuromusculartransmission, termed congenital myasthenic syndromes (CMS), has helped elucidate fundamental processes influencing development and function of the nerve-muscle synapse. Using genetic linkage, we find 18 different biallelic mutations in the gene encoding glutamine-fructose-6-phosphate transaminase 1 (GFPT1) in 13 unrelated families with an autosomal recessive CMS. Consistent with these data, downregulation of the GFPT1 ortholog gfpt1 in zebrafish embryos altered muscle fiber morphology and impaired neuromuscular junction development. GFPT1 is the key enzyme of the hexosaminepathway yielding the amino sugar UDP-N-acetylglucosamine, an essential substrate for protein glycosylation. Our findings provide further impetus to study the glycobiology of NMJ and synapses in general.

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