Sort   by:  
 Page size 
ProteomicsLYSET/TMEM251 KO and GNPTAB KO secretomes from MEFs
Analysis of proteins secreted over 24 h in OptiMEM by LYSET/TMEM251 knockout, GNPTAB knockout and wild-type MEFs
ORGANISM(S): Mus musculus (Mouse) 
2022-09-29 | PXD035822 | Pride
Mefs Lyset Secretome Tmem251 Gnptab 
UnknownA GNPTAB nonsense variant is associated with feline mucolipidosis II (I-cell disease).
Not available
S-EPMC6307278 | biostudies-literature
UnknownAssociation study of stuttering candidate genes GNPTAB, GNPTG and NAGPA with dyslexia in Chinese population.
Not available
S-EPMC4342093 | biostudies-literature
TranscriptomicsExpression data from primary osteoblasts isolated from calvaria of Gnptab(c.3082insC) knock-in mice compared with osteoblasts isolated from wild-type littermates
Mucolipidosis type II (MLII) is a severe inherited multisystemic disorder caused by mutations in the GNPTAB gene. Skeletal abnormalities are a predominant feature of MLII. Here we investigate the gene expression in a knock-in mouse model for mucolipidosis type II, generated by the insertion of a cyt...
ORGANISM(S): Mus musculus 
2014-01-29 | GSE43854 | GEO
Genomics
Gut samples from a mouse model of stuttering (Gnptab mutant)
PRJNA1142035 | ENA
UnknownHuman GNPTAB stuttering mutations engineered into mice cause vocalization deficits and astrocyte pathology in the corpus callosum.
Not available
S-EPMC6717282 | biostudies-literature
UnknownA novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain.
Not available
S-EPMC3992569 | biostudies-literature
UnknownQuaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene.
Not available
S-EPMC8333150 | biostudies-literature
UnknownEvaluation of recurrent GNPTAB, GNPTG, and NAGPA variants associated with stuttering.
Not available
S-EPMC9744500 | biostudies-literature
UnknownCompound heterozygous GNPTAB mutations cause mucolipidosis II or III alpha/beta in two Chinese families.
Not available
S-EPMC6949696 | biostudies-literature
Sort   by:  
 Page size