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ALG14 gene
Known as:
ASPARAGINE-LINKED GLYCOSYLATION 14, S. CEREVISIAE, HOMOLOG OF
, ALG14
, ALG14, S. CEREVISIAE, HOMOLOG OF
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National Institutes of Health
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Early and lethal neurodegeneration with myasthenic and myopathic features
D. Schorling
,
S. Rost
,
+11 authors
J. Kirschner
Neurology
2017
Corpus ID: 24060931
Objective: To describe the presentation and identify the cause of a new clinical phenotype, characterized by early severe…
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2017
2017
Congenital myasthenia and congenital disorders of glycosylation caused by mutations in the DPAGT1 gene.
S. Ibáñez-Micó
,
R. Domingo Jiménez
,
C. Pérez‐Cerdá
,
D. Ghandour-Fabre
Neurología
2017
Corpus ID: 33265651
2016
2016
Early Lethal Neurodegeneration with Myasthenic and Myopathic Features: A New Genetic Syndrome Due to Previously Undescribed ALG14 Mutations
D. Schorling
,
S. Rost
,
+5 authors
J. Kirschner
2016
Corpus ID: 75692945
2016
2016
Novel Citronellyl-Based Photoprobes Designed to Identify ER Proteins Interacting with Dolichyl Phosphate in Yeast and Mammalian Cells.
J. Rush
,
T. Subramanian
,
K. L. Subramanian
,
Fredrick O Onono
,
C. J. Waechter
,
H. Spielmann
Current Chemical Biology
2016
Corpus ID: 41414552
BACKGROUND Dolichyl phosphate-linked mono- and oligosaccharides (DLO) are essential intermediates in protein N-glycosylation, C…
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2013
2013
Defective N-linked protein glycosylation pathway in congenital myasthenic syndromes.
H. Houlden
Brain : a journal of neurology
2013
Corpus ID: 45464318
Congenital myasthenic syndromes are heterogeneous genetic disorders characterized by compromised neuromuscular transmission for…
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2007
2007
MEMBRANE TOPOLOGY OF THE Alg 14 ER UDP-GlcNAc TRANSFERASE SUBUNIT
N. Averbeck
,
S. Keppler-Ross
,
N. Dean
2007
Corpus ID: 10513945
N-linked glycosylation begins in the endoplasmic reticulum with the synthesis of a highly conserved dolichol-linked…
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