User profiles for H. R. Waterham

HR Waterham

Professor 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 …

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. …

[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 …

[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 …

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 …

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 …

[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, …

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 …

ABCD1 mutations and the X‐linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations

S Kemp, A Pujol, HR Waterham, BM Van Geel… - Human …, 2001 - Wiley Online Library
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‐…

[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 …