Documents (66,076) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	9603435	W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A	1.9 KB	2015-11-27	45	5	2024-01-10
PubMed	25488668	Impaired O-linked N-acetylglucosaminylation in the endoplasmic reticulum by mutated epidermal growth	2 KB	2018-12-27	44	3	2024-01-10
PubMed	9709714	Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-c	1.15 KB	2015-03-12	42	1	2024-01-10
PubMed	17652097	Enhanced lysosomal pathology caused by beta-synuclein mutants linked to dementia with Lewy bodies. T	1.85 KB	2015-11-23	41	2	2024-01-10
PubMed	15355971	Caveolin-1 gene disruption promotes mammary tumorigenesis and dramatically enhances lung metastasis	2.92 KB	2015-11-22	41	1	2024-01-10
PubMed	8663282	Single amino acid residues in the E- and P-selectin epidermal growth factor domains can determine ca	2.15 KB	2018-12-27	41	1	2024-01-10
PubMed	28204496	The glycan-specific sulfotransferase (R77W)GalNAc-4-ST1 putatively responsible for peeling skin synd	2.13 KB	2019-05-30	40	4	2024-01-10
PubMed	10724530	Enzymatic synthesis of blood group A and B trisaccharide analogues. Glycosyltransferases A and B uti	1.71 KB	2015-11-21	40	3	2024-01-10
PubMed	12023287	Molecular basis of the globoside-deficient P(k) blood group phenotype. Identification of four inacti	1.62 KB	2015-11-13	40	1	2024-01-10
PubMed	11279193	Molecular basis for severe epimerase deficiency galactosemia. X-ray structure of the human V94m-subs	1.42 KB	2015-11-17	40	3	2024-01-10