adrenoleukodystrophy/protease

Krækjan er vistuð á klemmuspjaldið

GreinarKlínískar rannsóknirEinkaleyfi

Veldu tegund tegund

6 niðurstöður

Protease inhibitors suppress the degradation of mutant adrenoleukodystrophy proteins but do not correct impairment of very long chain fatty acid metabolism in adrenoleukodystrophy fibroblasts.

Aðeins skráðir notendur geta þýtt greinar

Skráðu þig / skráðu þig

The adrenoleukodystrophy (ALD) gene product, ALD protein (ALDP), was not detected in fibroblasts from our or most other patients with ALD as determined by immunoblot or immunocytochemistry. We investigated the stability of mutant ALDP and found from pulse-chase experiments that the respective

[Adrenoleukodystrophy: structure and function of ALDP, and intracellular behavior of mutant ALDP with naturally occurring missense mutations].

Aðeins skráðir notendur geta þýtt greinar

Skráðu þig / skráðu þig

Adrenoleukodystrophy (ALD) is an inherited disorder characterized by progressive demyelination of the central nervous system and adrenal dysfunction. The biochemical characterization is based on the accumulation of pathgnomonic amounts of saturated very long-chain fatty acid (VLCFA; C>22) in all

Intraperoxisomal localization of very-long-chain fatty acyl-CoA synthetase: implication in X-adrenoleukodystrophy.

Aðeins skráðir notendur geta þýtt greinar

Skráðu þig / skráðu þig

X-adrenoleukodystrophy (X-ALD) is a demyelinating disorder characterized by the accumulation of saturated very-long-chain (VLC) fatty acids (>C(22:0)) due to the impaired activity of VLC acyl-CoA synthetase (VLCAS). The gene responsible for X-ALD was found to code for a peroxisomal integral membrane

Probing substrate-induced conformational alterations in adrenoleukodystrophy protein by proteolysis.

Aðeins skráðir notendur geta þýtt greinar

Skráðu þig / skráðu þig

The adrenoleukodystrophy protein (ALDP) is a half-ABC (ATP-binding cassette) transporter localized in the peroxisomal membrane. Dysfunction of this protein is the cause of the human genetic disorder X-linked adrenoleukodystrophy (X-ALD), which is characterized by accumulation of saturated,

Functional characterization of two missense mutations in Pex5p - C11S and N526K.

Aðeins skráðir notendur geta þýtt greinar

Skráðu þig / skráðu þig

Most newly synthesized peroxisomal proteins are targeted to the organelle by Pex5p, the peroxisomal cycling receptor. Pex5p interacts with these proteins in the cytosol, transports them to the peroxisomal docking/translocation machinery and promotes their translocation across the organelle membrane.

Molecular mechanism of a temperature-sensitive phenotype in peroxisomal biogenesis disorder.

Aðeins skráðir notendur geta þýtt greinar

Skráðu þig / skráðu þig

Peroxisomal biogenesis disorders include Zellweger syndrome and milder phenotypes, such as neonatal adrenoleukodystrophy (NALD). Our previous study of a NALD patient with a marked deterioration by a fever revealed a mutation (Ile326Thr) within a SH3 domain of PEX13 protein (Pex13p), showing a

Skráðu þig á
facebook síðu okkar

Herbal & Natural Medicine

Heillasta gagnagrunnur lækningajurtanna sem studdur er af vísindum

Virkar á 55 tungumálum
Jurtalækningar studdir af vísindum
Jurtaviðurkenning eftir ímynd
Gagnvirkt GPS kort - merktu jurtir á staðsetningu (kemur fljótlega)
Lestu vísindarit sem tengjast leit þinni
Leitaðu að lækningajurtum eftir áhrifum þeirra
Skipuleggðu áhugamál þitt og vertu vakandi með fréttarannsóknum, klínískum rannsóknum og einkaleyfum

Sláðu inn einkenni eða sjúkdóm og lestu um jurtir sem gætu hjálpað, sláðu jurt og sjáðu sjúkdóma og einkenni sem hún er notuð við.
* Allar upplýsingar eru byggðar á birtum vísindarannsóknum