Documents (31,966) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	19917666	Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions o	1.84 KB	2019-05-30	57	3	-
PubMed	19451548	Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient. We	1.47 KB	2019-05-30	56	5	-
PubMed	16371368	Effects of a leukemia-associated gain-of-function mutation of SHP-2 phosphatase on interleukin-3 sig	2.24 KB	2019-09-23	55	3	-
PubMed	16046395	Allelic expression imbalance of human mu opioid receptor (OPRM1) caused by variant A118G. As a prima	1.52 KB	2015-11-19	49	3	-
PubMed	1353340	Late-onset metachromatic leukodystrophy: molecular pathology in two siblings. We report on a new all	716 Bytes	2015-11-18	42	3	-
PubMed	23592772	Hyper-O-GlcNAcylation is anti-apoptotic and maintains constitutive NF-κB activity in pancreatic canc	1.91 KB	2018-12-28	40	3	-
PubMed	24737316	Structural basis of pharmacological chaperoning for human β-galactosidase. GM1 gangliosidosis and Mo	1.46 KB	2015-11-26	39	3	-
PubMed	17652097	Enhanced lysosomal pathology caused by beta-synuclein mutants linked to dementia with Lewy bodies. T	1.85 KB	2015-11-23	38	34	-
PubMed	18470323	Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) g	2.08 KB	2015-11-24	38	3	-
PubMed	9694901	A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hy	2 KB	2015-11-27	38	3	-