scholarly journals Biochemical characterization of the very long-chain fatty acid elongase ELOVL7

FEBS Letters ◽  
2011 ◽  
Vol 585 (20) ◽  
pp. 3337-3341 ◽  
Author(s):  
Tatsuro Naganuma ◽  
Yuichiro Sato ◽  
Takayuki Sassa ◽  
Yusuke Ohno ◽  
Akio Kihara
Keyword(s):  
Fatty Acid ◽  
Biochemical Characterization ◽  
Chain Fatty Acid ◽  
Long Chain Fatty Acid ◽  
Fatty Acid Elongase ◽  
Long Chain

Identification and characterization of a very long-chain fatty acid elongase gene in the methylotrophic yeast, Hansenula polymorpha

Gene ◽  
2007 ◽  
Vol 391 (1-2) ◽  
pp. 16-25 ◽  
Author(s):  
Phatthanon Prasitchoke ◽  
Yoshinobu Kaneko ◽  
Takeshi Bamba ◽  
Eiichiro Fukusaki ◽  
Akio Kobayashi ◽  
...  
Keyword(s):  
Fatty Acid ◽  
Hansenula Polymorpha ◽  
Methylotrophic Yeast ◽  
Chain Fatty Acid ◽  
Long Chain Fatty Acid ◽  
Fatty Acid Elongase ◽  
Identification And Characterization ◽  
Long Chain

scholarly journals Two Italian Patients with ELOVL4-Related Neuro-Ichthyosis:  Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization

Genes ◽  
2021 ◽  
Vol 12 (3) ◽  
pp. 343
Author(s):  
Andrea Diociaiuti ◽  
Diego Martinelli ◽  
Francesco Nicita ◽  
Claudia Cesario ◽  
Elisa Pisaneschi ◽  
...  
Keyword(s):  
Fatty Acid ◽  
Chain Fatty Acid ◽  
Spinocerebellar Ataxia Type ◽  
Facial Dysmorphism ◽  
Macular Dystrophy ◽  
Compound Heterozygous ◽  
Long Chain Fatty Acid ◽  
Fatty Acid Elongase ◽  
Spastic Quadriplegia ◽  
Long Chain

Elongation of Very Long Chain Fatty Acid-4 (ELOVL4) is a fatty acid elongase responsible for very long-chain fatty acid biosynthesis in the brain, retina, and skin. Heterozygous mutations in ELOVL4 gene cause Stargardt-like macular dystrophy and spinocerebellar ataxia type-34, while different homozygous mutations have been associated with ichthyosis, spastic quadriplegia, and mental retardation syndrome in three kindred. We report the first two Italian children affected with neuro-ichthyosis due to the previously undescribed ELOVL4 homozygous frameshift variant c.435dupT (p.Ile146TyrfsTer29), and compound heterozygous variants c.208C>T (p.Arg70Ter) and c.487T>C (p.Cys163Arg), respectively. Both patients were born with collodion membrane followed by development of diffuse mild hyperkeratosis and scaling, localized erythema, and palmoplantar keratoderma. One infant displayed mild facial dysmorphism. They suffered from failure to thrive, and severe gastro-esophageal reflux with pulmonary aspiration. The patients presented axial hypotonia, hypertonia of limbs, and absent head control with poor eye contact from infancy. Visual evoked potentials showed markedly increased latency and poor morphological definition, indicative of alteration of the retro-retinal visual pathways in both patients. Ultrastructural skin examination revealed abnormalities of lamellar bodies with altered release in the epidermal granular and horny layer intracellular spaces. Our findings contribute to expanding the phenotypic and genotypic features of ELOVL4-related neuro-ichthyosis.

scholarly journals Characterization of Two Self-Sufficient Monooxygenases, CYP102A15 and CYP102A170, as Long-Chain Fatty Acid Hydroxylases

2020 ◽  
Vol 30 (5) ◽  
pp. 777-784
Author(s):  
Hemraj Rimal ◽  
Woo-Haeng Lee ◽  
Ki-Hwa Kim ◽  
Hyun Park ◽  
Tae-Jin Oh
Keyword(s):  
Fatty Acid ◽  
Chain Fatty Acid ◽  
Long Chain Fatty Acid ◽  
Long Chain

scholarly journals Characterization of four mammalian 3-hydroxyacyl-CoA dehydratases involved in very long-chain fatty acid synthesis

FEBS Letters ◽  
2008 ◽  
Vol 582 (16) ◽  
pp. 2435-2440 ◽  
Author(s):  
Mika Ikeda ◽  
Yuki Kanao ◽  
Masao Yamanaka ◽  
Hiroko Sakuraba ◽  
Yukiko Mizutani ◽  
...  
Keyword(s):  
Fatty Acid ◽  
Fatty Acid Synthesis ◽  
Acid Synthesis ◽  
Chain Fatty Acid ◽  
Long Chain Fatty Acid ◽  
Long Chain
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