کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
10768414 | 1050809 | 2005 | 8 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Mitochondrial targeting signals and mature peptides of 3-methylcrotonyl-CoA carboxylase
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کلمات کلیدی
propionyl-CoA carboxylase3-Methylcrotonyl-CoA carboxylaseSite-directed mutagenesis - mutagenesis مواجه با سایتInborn error of metabolism - خطای متولد شده متابولیسمCleavage sites - سایت های خرابکاریNewborn screening - غربالگری نوزادانMitochondrial targeting - هدف گیری میتوکندریProtein import - واردات پروتئین
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
زیست شیمی
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
Inherited deficiency of 3-methylcrotonyl-CoA carboxylase (MCC), an enzyme of leucine degradation, is an organic acidemia detectable by expanded newborn screening with a variable phenotype that ranges from asymptomatic to death in infancy. Here, we show that the two subunits of the enzyme (MCCα; MCCβ) are imported into the mitochondrial matrix by the classical pathway involving cleavable amino-terminal targeting presequences. We identified the cleavage sites (Tyr41/Thr42 and Ala22/Tyr23 for MCCα and MCCβ, respectively) of the targeting signals and the amino-termini of the mature polypeptides of MCC and propionyl-CoA carboxylase, a mitochondrial paralog. The amino-termini containing 39 (MCCα) or 20 amino acids (MCCβ) were both necessary and sufficient for targeting. Structural requirements for mitochondrial import were defined by site-directed mutagenesis. Our studies provide the prerequisite to understand the impact of specific mutations on the clinical phenotype of MCC deficiency.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Biochemical and Biophysical Research Communications - Volume 334, Issue 3, 2 September 2005, Pages 939-946
Journal: Biochemical and Biophysical Research Communications - Volume 334, Issue 3, 2 September 2005, Pages 939-946
نویسندگان
Sonja C. Stadler, Roman Polanetz, Stephan Meier, Peter U. Mayerhofer, Johannes M. Herrmann, Katja Anslinger, Adelbert A. Roscher, Wulf Röschinger, Andreas Holzinger,