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Journal of Clinical Investigation, ISSN 0021-9738, 05/2011, Volume 121, Issue 5, pp. 2013 - 2024
Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of end-stage renal failure. Identification of single-gene causes of SRNS has generated some... 
MEDICINE, RESEARCH & EXPERIMENTAL | OXIDATIVE STRESS | GENE | COENZYME-Q BIOSYNTHESIS | DIPHOSPHATE SYNTHASE SUBUNIT-2 | NPHS2 | GLOMERULAR PROTEIN | UBIQUINONE BIOSYNTHESIS | COQ DEFICIENCY | FOCAL SEGMENTAL GLOMERULOSCLEROSIS | SACCHAROMYCES-CEREVISIAE | Deafness | Gene mutations | Genetic aspects | Nephrotic syndrome | Research | Health aspects | Risk factors
Journal Article
PLoS Biology, ISSN 1544-9173, 08/2018, Volume 16, Issue 8, p. e2005886
Journal Article
JOURNAL OF CELL BIOLOGY, ISSN 0021-9525, 11/2006, Volume 175, Issue 3, pp. 441 - 451
Journal Article
Neurology, ISSN 0028-3878, 04/2012, Volume 78, Issue Meeting Abstracts 1, pp. P07 - P07.212
Journal Article
JOURNAL OF MEDICAL GENETICS, ISSN 0022-2593, 03/2012, Volume 49, Issue 3, pp. 187 - 191
Background COQ4 encodes a protein that organises the multienzyme complex for the synthesis of coenzyme Q(10) (CoQ(10)). A 3.9 Mb deletion of chromosome 9q34.13... 
YEAST | MITOCHONDRIAL ENCEPHALOMYOPATHY | GENE | BIOSYNTHESIS | GENETICS & HEREDITY | MUSCLE | COQ DEFICIENCY | MUTATIONS
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 10/2009, Volume 284, Issue 42, pp. 28926 - 28934
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2012, Volume 7, Issue 1, pp. 21 - 21
Journal Article
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, ISSN 0006-291X, 07/2008, Volume 372, Issue 1, pp. 35 - 39
Defects in genes involved in coenzyme Q (CoQ) biosynthesis cause primary CoQ deficiency, a severe multisystem disorders presenting as progressive... 
ubiquinone | RESPIRATORY-CHAIN | BIOCHEMISTRY & MOLECULAR BIOLOGY | ATAXIA | NEPHROPATHY | SYNTHASE | BIOPHYSICS | biosynthesis | coenzyme Q deficiency | MUTATIONS | PROTEINS | UBIQUINONE DEFICIENCY | coenzyme Q | GLYCEROL | LUNGS | MITOCHONDRIA | SACCHAROMYCES CEREVISIAE | TRANSCRIPTION | PANCREAS | UBIQUINONE | CHROMOSOMES | 60 APPLIED LIFE SCIENCES | HELA CELLS | NUCLEOTIDES | AMINO ACIDS | BIOSYNTHESIS | GENES | LIVER
Journal Article
Handbook of Experimental Pharmacology, ISSN 0171-2004, 2008, Volume 186, Issue 186, pp. 285 - 298
The study of cAMP signaling has received a renewed impulse since the recognition that a key aspect of this pathway is the tight spatial control of signal... 
Cyclic AMP-Dependent Protein Kinases - metabolism | Animals | Signal Transduction | Guanine Nucleotide Exchange Factors - metabolism | Humans | Fluorescence Resonance Energy Transfer - methods | Cyclic AMP - metabolism | Cyclic Nucleotide-Gated Cation Channels - metabolism
Conference Proceeding
2008, Handbook of Experimental Pharmacology, ISBN 9783540728429, Volume 186
The study of cAMP signaling has received a renewed impulse since the recognition that a key aspect of this pathway is the tight spatial control of signal... 
Medical Biochemistry | Molecular Medicine | Biomedicine | Pharmacology/Toxicology | Cell Biology
Book Chapter
Biochemical and Biophysical Research Communications, ISSN 0006-291X, 07/2008, Volume 372, Issue 1, pp. 35 - 39
Defects in genes involved in coenzyme Q (CoQ) biosynthesis cause primary CoQ deficiency, a severe multisystem disorders presenting as progressive... 
Journal Article
06/2008, Handbook of experimental pharmacology, ISBN 9783540728429, Volume 186, 1
High level academic ebook 
Drug targeting | Protein-protein interactions
eBook
1992, Volume 11585., 19
Book
Journal of Medical Genetics, ISSN 0022-2593, 03/2012, Volume 49, Issue 3, pp. 187 - 191
Journal Article
Journal of Cell Biology, ISSN 0021-9525, 11/2006, Volume 175, Issue 3, pp. 441 - 451
There is a growing appreciation that the cyclic adenosine monophosphate (cAMP)–protein kinase A (PKA) signaling pathway is organized to form transduction units... 
Journal Article
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