Characterization of the mutation responsible for aspartylglucosaminuria in three Finnish patients. Amino acid substitution Cys163----Ser abolishes the activity of lysosomal glycosylasparaginase and its conversion into subunits
about
Purification and structure of human liver aspartylglucosaminidaseHuman leucocyte glycosylasparaginase is an alpha/beta-heterodimer of 19 kDa alpha-subunit and 17 and 18 kDa beta-subunitSleep and sleep disorders in rare hereditary diseases: a reminder for the pediatrician, pediatric and adult neurologist, general practitioner, and sleep specialistAspartylglycosaminuria: a reviewAspartylglucosaminuria in northern Norway: a molecular and genealogical study.Lysosomal aspartylglucosaminidase is processed to the active subunit complex in the endoplasmic reticulumCarrier testing for severe childhood recessive diseases by next-generation sequencingHeterodimerization of the sialidase NEU1 with the chaperone protective protein/cathepsin A prevents its premature oligomerization.Spectrum of mutations in aspartylglucosaminuria.Characterization of three alleles causing aspartylglycosaminuria: two from a British family and one from an American patient.The transmembrane domain of diphtheria toxin improves molecular conjugate gene transfer.Comparison of liver glycosylasparaginases from six vertebrates.
P2860
Q24306126-DA570377-C849-4405-9190-D36E67437830Q24528875-C10AD75E-ADC0-41EE-B7CC-27D2896D882EQ27015026-87F79AF6-55CF-4E25-96F4-46A3695511DDQ28077247-66E9AA88-F66A-40FF-9A3A-780B814ABA31Q33674126-C9747BCD-C358-4D8F-ACC9-9B956E705D63Q34041841-13B7912A-8D5C-4834-8056-B6210294A754Q37086582-AC908715-FB44-4AEB-BC73-54F4EB47D142Q37460020-A5080EFC-B5E2-4F49-93FD-49F2246A310CQ37643452-B349D06E-C2E7-4283-9139-BF92640141BAQ41565600-5B34E9E9-33B0-41F6-8CD8-1DF146AC18CDQ42119139-9F00A804-B0E0-4244-BA5C-17AD9B0AAFF7Q42793157-6B39569D-697F-4296-ABAE-9A095A2D7C9B
P2860
Characterization of the mutation responsible for aspartylglucosaminuria in three Finnish patients. Amino acid substitution Cys163----Ser abolishes the activity of lysosomal glycosylasparaginase and its conversion into subunits
description
1991 nî lūn-bûn
@nan
1991 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Characterization of the mutati ...... d its conversion into subunits
@ast
Characterization of the mutati ...... d its conversion into subunits
@en
Characterization of the mutati ...... d its conversion into subunits
@en-gb
Characterization of the mutati ...... d its conversion into subunits
@nl
type
label
Characterization of the mutati ...... d its conversion into subunits
@ast
Characterization of the mutati ...... d its conversion into subunits
@en
Characterization of the mutati ...... d its conversion into subunits
@en-gb
Characterization of the mutati ...... d its conversion into subunits
@nl
prefLabel
Characterization of the mutati ...... d its conversion into subunits
@ast
Characterization of the mutati ...... d its conversion into subunits
@en
Characterization of the mutati ...... d its conversion into subunits
@en-gb
Characterization of the mutati ...... d its conversion into subunits
@nl
P921
P1476
Characterization of the mutati ...... d its conversion into subunits
@en
P2093
Aronson NN Jr
P304
12105-12113
P407
P577
1991-06-01T00:00:00Z