User profiles for H. R. Waterham
HR WaterhamProfessor Functional Genetics of Metabolic Diseases at University of Amsterdam Verified email at amc.uva.nl Cited by 25804 |
Biochemistry of mammalian peroxisomes revisited
RJA Wanders, HR Waterham - Annu. Rev. Biochem., 2006 - annualreviews.org
In this review, we describe the current state of knowledge about the biochemistry of mammalian
peroxisomes, especially human peroxisomes. The identification and characterization of …
peroxisomes, especially human peroxisomes. The identification and characterization of …
Functions and biosynthesis of plasmalogens in health and disease
P Brites, HR Waterham, RJA Wanders - … BBA)-Molecular and Cell Biology of …, 2004 - Elsevier
Plasmalogens (1-O-alk-1′-enyl-2-acyl glycerophospholipids) constitute a special class of
phospholipids characterized by the presence of a vinyl–ether bond at the sn-1 position. …
phospholipids characterized by the presence of a vinyl–ether bond at the sn-1 position. …
[HTML][HTML] Human disorders of peroxisome metabolism and biogenesis
HR Waterham, S Ferdinandusse… - Biochimica Et Biophysica …, 2016 - Elsevier
Peroxisomes are dynamic organelles that play an essential role in a variety of cellular
catabolic and anabolic metabolic pathways, including fatty acid alpha- and beta-oxidation, and …
catabolic and anabolic metabolic pathways, including fatty acid alpha- and beta-oxidation, and …
[HTML][HTML] A lethal defect of mitochondrial and peroxisomal fission
HR Waterham, J Koster… - … England Journal of …, 2007 - Mass Medical Soc
<p id="p001">We report on a newborn girl with microcephaly, abnormal brain development,
optic atrophy and hypoplasia, persistent lactic acidemia, and a mildly elevated plasma …
optic atrophy and hypoplasia, persistent lactic acidemia, and a mildly elevated plasma …
Isolation of the Pichia pastoris glyceraldehyde-3-phosphate dehydrogenase gene and regulation and use of its promoter
HR Waterham, ME Digan, PJ Koutz, SV Lair, JM Cregg - Gene, 1997 - Elsevier
We report the cloning and sequence of the glyceraldehyde-3-phosphate dehydrogenase gene
(GAP) from the yeast Pichia pastoris. The gene is predicted to encode a 35.4-kDa protein …
(GAP) from the yeast Pichia pastoris. The gene is predicted to encode a 35.4-kDa protein …
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome
…, WAR Huijbers, GT Rijkers, HR Waterham… - Nature …, 1999 - nature.com
Hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS; MIM 260920) is an
autosomal recessive disorder characterized by recurrent episodes of fever associated with …
autosomal recessive disorder characterized by recurrent episodes of fever associated with …
[PDF][PDF] Mutations in the 3β-hydroxysterol Δ24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis
HR Waterham, J Koster, GJ Romeijn… - The American Journal of …, 2001 - cell.com
… Highest expression was observed in adult adrenal gland and, to a lesser extent, in adult
spinal cord, liver, medulla oblongata, and pons as well as in fetal liver (HR Waterham, …
spinal cord, liver, medulla oblongata, and pons as well as in fetal liver (HR Waterham, …
Peroxisomal fatty acid α- and β-oxidation in humans: enzymology, peroxisomal metabolite transporters and peroxisomal diseases
…, GA Jansen, HR Waterham… - Biochemical Society …, 2001 - portlandpress.com
Peroxisomes are subcellular organelles with an indispensable role in cellular metabolism.
The importance of peroxisomes for humans is stressed by the existence of a group of genetic …
The importance of peroxisomes for humans is stressed by the existence of a group of genetic …
ABCD1 mutations and the X‐linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations
X‐linked adrenoleukodystrophy (X‐ALD) is caused by mutations in the ABCD1 gene, which
encodes a peroxisomal ABC half‐transporter (ALDP) involved in the import of very long‐…
encodes a peroxisomal ABC half‐transporter (ALDP) involved in the import of very long‐…
[HTML][HTML] Metabolic interplay between peroxisomes and other subcellular organelles including mitochondria and the endoplasmic reticulum
RJA Wanders, HR Waterham… - Frontiers in cell and …, 2016 - frontiersin.org
Peroxisomes are unique subcellular organelles which play an indispensable role in several
key metabolic pathways which include: (1.) etherphospholipid biosynthesis; (2.) fatty acid …
key metabolic pathways which include: (1.) etherphospholipid biosynthesis; (2.) fatty acid …