Results 31 to 40 of about 1,141,621 (185)

Peroxisomal biogenesis disorders in Zellweger syndrome spectrum: diagnosis, monitoring and treatment according to the recommendations of the Global Foundation for Peroxisomal Disorders

Zdorovʹe Rebenka, 2018
The article deals with the modern principles for the diagnosis and treatment of peroxisomal biogenesis disorders of Zellweger syndrome spectrum according to the recommendations of the Global Foundation for Peroxisomal Disorders 2016.
M.A. Gonchar, G.R. Muratov, O.L. Logvinova, E.M. Pushkar, E.P. Pomazunovskaya, E.V. Omelchenko, N.V. Shulga, I.M. Galdina, A.S. Zubko, N.V. Strebul   +9 more
doaj   +1 more source

3-Hydroxy-3-methylglutaryl coenzyme A lyase: targeting and processing in peroxisomes and mitochondria

Journal of Lipid Research, 1999
3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL, E.C. 4.1.3.4) has a unique dual localization in both mitochondria and peroxisomes. Mitochondrial HL (~31.0 kDa) catalyzes the last step of ketogenesis; the function of peroxisomal HL (~33.5 kDa) is unknown.
Lyudmila I. Ashmarina, Alexey V. Pshezhetsky, Steven S. Branda, Grazia Isaya, Grant A. Mitchell   +4 more
doaj   +1 more source

Saudi patient with peroxisome biogenesis disorder with novel variant: a case report

Journal of Biochemical and Clinical Genetics, 2021
Background: Peroxisomes are cells' organelles that responsible for the metabolism of branched-chain and very-long-chain fatty acids (VLCFA), polyamines, and amino acids.
Ahmed Awad AbuAlreesh, Rayah Mohamed Asiri, Abeer Awad AbuAlreesh, Zuhair Rahbeeni   +3 more
doaj   +1 more source

Zellweger Syndrome with Novel PEX1 Variants and Unusual Periventricular Leukomalacia in a Term Infant: A Case Report [PDF]

Journal of Clinical and Diagnostic Research
Zellweger syndrome is a rare disorder due to mutations in PEX genes, resulting in defective peroxisome biogenesis and multi-systemic features. This is a case of a male infant born at term via caesarean section due to breech presentation, who experienced ...
Rachana Mahadeva Prasad, Shalini Sankalapura Rangaswamy, Hamsa Mahadevaiah, Mannan Mangal, Gloria Vinoy   +4 more
doaj   +1 more source

An infant with blended phenotype of zellweger spectrum disorder and congenital muscular dystrophy

Annals of Indian Academy of Neurology, 2021
We report a newborn born to a consanguineous couple with antenatally detected dilatation of third ventricle, unilateral talipes, and intra uterine growth retardation.
Priyanka Gupta, Rajendra Prasad Anne, Sai Kiran Deshabhotla, Gayatri Nerakh   +3 more
doaj   +1 more source

Lack of requirement for sterol carrier protein-2 in the intracellular trafficking of lysosomal cholesterol.

Journal of Lipid Research, 1994
Previous work has established that the absence of peroxisomes, as occurs in Zellweger syndrome, is accompanied by the absence of cellular sterol carrier protein-2 (SCP2).
W J Johnson, M P Reinhart
doaj   +1 more source

Absence of functional peroxisomes does not lead to deficiency of enzymes involved in cholesterol biosynthesis

Journal of Lipid Research, 2002
To unravel the conflicting data concerning the dependence of human cholesterol biosynthesis on functional peroxisomes, we determined activities and levels of selected enzymes involved in cholesterol biosynthesis in livers of PEX5 knockout mice, a well ...
Sietske Hogenboom, Gerrit Jan Romeijn, Sander M. Houten, Myriam Baes, Ronald J.A. Wanders, Hans R. Waterham   +5 more
doaj   +1 more source

A novel mutation in the PEX26 gene in a family from Dagestan with members affected by Zellweger spectrum disorder

Molecular Genetics and Metabolism Reports, 2021
Background: Peroxisome biogenesis disorders (PBD) are a heterogeneous group of autosomal recessive disorders that affect multiple organ systems. Approximately 80% of PBD patients are classifiedin the Zellweger syndrome spectrum, which is generally caused
Natalia A. Semenova, Marina V. Kurkina, Andrey V. Marakhonov, Elena L. Dadali, Natalia N. Taran, Tatyana V. Strokova   +5 more
doaj   +1 more source

A comparative study of straight chain and branched chain fatty acid oxidation in skin fibroblasts from patients with peroxisomal disorders.

Journal of Lipid Research, 1990
The beta-oxidation of stearic acid and of alpha- and gamma-methyl isoprenoid-derived fatty acids (pristanic and tetramethylheptadecanoic acids, respectively) was investigated in normal skin fibroblasts and in fibroblasts from patients with inherited ...
H Singh, S Usher, D Johnson, A Poulos
doaj   +1 more source

Foreign bodies - Christoph Zellweger

, 2007
The monograph, published and distributed internationally by ACTAR Publishers, targets academic and non-academic audiences concerned with hybrid practices in the arts, applied art and design.
Zellweger, Christoph
core   +6 more sources