about
Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathyNew insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 geneMenin, the multiple endocrine neoplasia type 1 gene product, exhibits GTP-hydrolyzing activity in the presence of the tumor metastasis suppressor nm23Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria.Dystonia-associated mutations cause premature degradation of torsinA protein and cell-type-specific mislocalization to the nuclear envelopeActivation of mutant enzyme function in vivo by proteasome inhibitors and treatments that induce Hsp70Computational approaches to study the effects of small genomic variations.Dataset of eye disease-related proteins analyzed using the unfolding mutation screen.Correlating disease-related mutations to their effect on protein stability: a large-scale analysis of the human proteome.Functional characterization of the protein C A267T mutation: evidence for impaired secretion due to defective intracellular transport.Bioinformatic analysis of pathogenic missense mutations of activin receptor like kinase 1 ectodomainAutophagy in the eye: implications for ocular cell health.Theoretical and experimental study of the D2194G mutation in the C2 domain of coagulation factor V.Alpha-1 antitrypsin deficiencyQuality control of protein folding in extracellular space.Missense meanderings in sequence space: a biophysical view of protein evolution.Mechanisms of liver injury relevant to pediatric hepatology.Learning cell biology as a team: a project-based approach to upper-division cell biologyMutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia.Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferaseMenin missense mutants associated with multiple endocrine neoplasia type 1 are rapidly degraded via the ubiquitin-proteasome pathway.Chemical chaperone rescue of mutant human cystathionine beta-synthaseDeletion mutations in N-terminal alpha1 helix render heat labile enterotoxin B subunit susceptible to degradation.The G59S mutation in p150(glued) causes dysfunction of dynactin in mice.BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.Reduction of cellular expression levels is a common feature of functionally affected pendrin (SLC26A4) protein variants.Correction of cystathionine β-synthase deficiency in mice by treatment with proteasome inhibitors.Genetic testing in renal disease.Trafficking defects of a novel autosomal recessive distal renal tubular acidosis mutant (S773P) of the human kidney anion exchanger (kAE1).The multiple roles of epidermal growth factor repeat O-glycans in animal development.Erdj3 Has an Essential Role for Z Variant Alpha-1-Antitrypsin Degradation.Loss of stability and hydrophobicity of presenilin 1 mutations causing Alzheimer's disease.Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms.Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations.Protein processing and degradation in pulmonary health and disease.Global defects in the expression and function of the low density lipoprotein receptor (LDLR) associated with two familial hypercholesterolemia mutations resulting in misfolding of the LDLR epidermal growth factor-AB pair.Proline residues in transmembrane segment IV are critical for activity, expression and targeting of the Na+/H+ exchanger isoform 1.A common disease-associated missense mutation in alpha-sarcoglycan fails to cause muscular dystrophy in mice.Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels.Human hereditary glutathione synthetase deficiency: kinetic properties of mutant enzymes.
P2860
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P2860
description
1999 nî lūn-bûn
@nan
1999 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Protein misfolding and degradation in genetic diseases.
@ast
Protein misfolding and degradation in genetic diseases.
@en
type
label
Protein misfolding and degradation in genetic diseases.
@ast
Protein misfolding and degradation in genetic diseases.
@en
prefLabel
Protein misfolding and degradation in genetic diseases.
@ast
Protein misfolding and degradation in genetic diseases.
@en
P2093
P2860
P50
P1433
P1476
Protein misfolding and degradation in genetic diseases
@en
P2093
Gregersen N
Jørgensen MM
P2860
P304
P356
10.1002/(SICI)1098-1004(1999)14:3<186::AID-HUMU2>3.0.CO;2-J
P577
1999-01-01T00:00:00Z