peroxisomal disorders/protease

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NakalaMajaribio ya klinikiHati miliki

Chagua aina ya aina

4 matokeo

Non-rhizomelic and rhizomelic chondrodysplasia punctata within a single complementation group.

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Ingia / Ingia

Several patients have been described recently who suffer from a non-rhizomelic type of chondrodysplasia punctata (CDP), but who show all the biochemical abnormalities characteristic of the rhizomelic form of chondrodysplasia punctata (RCDP), a peroxisomal disorder. We have used protease protection

Intracellular localization, function, and dysfunction of the peroxisome-targeting signal type 2 receptor, Pex7p, in mammalian cells.

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Ingia / Ingia

We previously isolated and characterized a Chinese hamster ovary (CHO) cell mutant, ZPG207, that is defective in import of proteins carrying a peroxisome-targeting signal type 2 (PTS2) nonapeptide. Herein we have cloned Chinese hamster (Cl) PEX7 encoding the PTS2 receptor. ClPex7p consists of 318

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

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Ingia / Ingia

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.

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Ingia / Ingia

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

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Herbal & Natural Medicine

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