نتایج جستجو برای: zellweger syndrome

تعداد نتایج: 622015  

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2005
O E Glenn

the set T1 + T2 + T3 + . . . + Tn. Let K denote the set of all points X of M such that X can be joined to A by a connected subset of M which contains no point outside of C and let E denote the sum of the sets H and K. Let D denote the complementary domain of E which contains B and let L denote the boundary of D. Since K is2 a continuous curve and each Ti is3 a continuous curve, therefore, E is ...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2005
C Barus

College of Agriculture, University of Illinois. The senior author is alone responsible for the manuscript and any views or shortcomings it may contain. 2 Detlefsen, A., These PROCUSDINGS, 6, 1920 (663-670). 8Weinstein, A., Genetics, 3, 1918 (135-174). 4Sturtevant, A. H., These PROCERDINGS, 7, 1921 (181-183). 6 Sturtevant, A. H., Carnegie Institution, Washington, Publ., No. 278, 1919 (305-341). ...

2005
parWolfgang MÜLLER

has a nonzero integer solution for every > 0. If some Qi is rational and is small enough then for x ∈ Zs the inequality |Qi(x)| < is equivalent to the equation Qi(x) = 0. Hence if all forms are rational then for sufficiently small the system (1.1) reduces to a system of equations. In this case W. Schmidt [10] proved the following result. Recall that the real pencil generated by the forms Q1, . ...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2005
F Zwicky

2 For a detailed account of the methods reference may be made to C. Ramsauer, Ann. Physik., 72, p. 345, 1923, and Jahrb. Radioaktivitdt, 19, p. 345, 1923; R. B. Brode, Physic. Rev., 25, p. 636, 1925, and Proc. of the Royal Soc., 109, p. 397, 1925. 3 F. Zwicky, Physik. Zeitschr., 24, p. 171, 1923. 4E. C. Stoner, Phil. Mag., 48, p. 719, 1924. 5 F. Hund, Zs. Physik, 13, p. 241, 1923; G. Wentzel, I...

2016
Zohier B. Salah Simon P. Rout Paul N. Humphreys

Here, we present the whole-genome sequence of an environmental Gram-negative Alishewanella aestuarii strain (HH-ZS), isolated from the hyperalkaline contaminated soil of a historical lime kiln in Buxton, United Kingdom.

Journal: :European journal of cell biology 1995
M Espeel F Roels M Giros H Mandel A Peltier F Poggi B T Poll-The J A Smeitink L Van Maldergem M J Santos

The presence of peroxisomal membrane ghosts was examined in liver biopsies from eleven patients presenting the clinical and biochemical picture of a generalized peroxisomal disorder (Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum disease and variants of these syndromes). A polyclonal antibody raised against the membrane of human liver peroxisomes and recognizing a 43 kDa pe...

2011
Fred D. Mast Jing Li Maninder K. Virk Sarah C. Hughes Andrew J. Simmonds Richard A. Rachubinski

Human peroxisome biogenesis disorders are lethal genetic diseases in which abnormal peroxisome assembly compromises overall peroxisome and cellular function. Peroxisomes are ubiquitous membrane-bound organelles involved in several important biochemical processes, notably lipid metabolism and the use of reactive oxygen species for detoxification. Using cultured cells, we systematically character...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1998
B V Geisbrecht C S Collins B E Reuber S J Gould

Peroxisomal matrix protein import requires the action of two AAA ATPases, PEX1 and PEX6. Mutations in either the PEX1 or PEX6 gene are the most common cause of the lethal neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease and account for disease in 80% of all such patients. We report here that overexpression of PEX6 can suppress the phenotypes o...

Journal: :Journal of lipid research 2012
Noriyuki Kanzawa Nobuyuki Shimozawa Ronald J A Wanders Kazutaka Ikeda Yoshiko Murakami Hans R Waterham Satoru Mukai Morihisa Fujita Yusuke Maeda Ryo Taguchi Yukio Fujiki Taroh Kinoshita

Many cell surface proteins in mammalian cells are anchored to the plasma membrane via glycosylphosphatidylinositol (GPI). The predominant form of mammalian GPI contains 1-alkyl-2-acyl phosphatidylinositol (PI), which is generated by lipid remodeling from diacyl PI. The conversion of diacyl PI to 1-alkyl-2-acyl PI occurs in the ER at the third intermediate in the GPI biosynthetic pathway. This l...

Journal: :The Journal of neuroscience : the official journal of the Society for Neuroscience 2003
Anneleen Janssen Pierre Gressens Markus Grabenbauer Eveline Baumgart Arno Schad Ilse Vanhorebeek Annelies Brouwers Peter E Declercq Dariush Fahimi Philippe Evrard Luc Schoonjans Désiré Collen Peter Carmeliet Guy Mannaerts Paul Van Veldhoven Myriam Baes

Functional peroxisome deficiency, as encountered in Zellweger syndrome, causes a specific impairment of neuronal migration. Although the molecular mechanisms underlying the neuronal migration defect are at present unknown, the excess of very long chain fatty acids in brain, a consequence of peroxisomalbeta-oxidation deficiency, has often been hypothesized to play a major role. The purpose of th...

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