Identification of a novel CoA synthase isoform, which is primarily expressed in the brain

Nemazanyy, Ivan; Panasyuk, Ganna; Breus, Oksana; Zhyvoloup, Alexander; Filonenko, Valeriy; Gout, Ivan

doi:10.1016/j.bbrc.2006.01.051

Cited by 21 publications

(22 citation statements)

References 14 publications

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“…COASY codes for three splicing variants of which only two, COASY-α and COASY-β, are protein-coding (Nemazanyy et al 2006). COASY-α has ubiquitous expression, whereas the β isoform, which possesses a 29 aa-long Nterminal extension, is primarily expressed in the brain.…”

Section: Coasy Protein-associated Neurodegeneration (Copan)mentioning

confidence: 99%

Defective lipid metabolism in neurodegeneration with brain iron accumulation (NBIA) syndromes: not only a matter of iron

Colombelli

Aoun

Tiranti

2014

J of Inher Metab Disea

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Neurodegeneration with brain iron accumulation (NBIA) is a group of devastating and life threatening rare diseases. Adult and early-onset NBIA syndromes are inherited as X-chromosomal, autosomal dominant or recessive traits and several genes have been identified as responsible for these disorders. Among the identified disease genes, only two code for proteins directly involved in iron metabolism while the remaining NBIA genes encode proteins with a wide variety of functions ranging from fatty acid metabolism and autophagy to still unknown activities. It is becoming increasingly evident that many neurodegenerative diseases are associated with metabolic dysfunction that often involves altered lipid metabolism. This is not surprising since neurons have a peculiar and heterogeneous lipid composition critical for the development and correct functioning of the nervous system. This review will focus on specific NBIA forms, namely PKAN, CoPAN, PLAN, FAHN and MPAN, which display an interesting link between neurodegeneration and alteration of phospholipids and sphingolipids metabolism, mitochondrial morphology and membrane remodelling.

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Section: Coasy Protein-associated Neurodegeneration (Copan)mentioning

confidence: 99%

Defective lipid metabolism in neurodegeneration with brain iron accumulation (NBIA) syndromes: not only a matter of iron

Colombelli

Aoun

Tiranti

2014

J of Inher Metab Disea

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“…Molecular cloning confirmed existence of this splice isoform possessing 29 aa extension at the N-terminus [41].…”

mentioning

confidence: 67%

PI3K/mTOR/S6K signaling pathway – new players and new functional links

Filonenko

2013

Biopolym. Cell

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This review summarizes experimental data related to the studies of PI3K/mTOR/S6K signaling conducted at the department of cell signaling. Analysis of novel S6Ks protein-protein interactions provided valuable information for understanding molecular mechanisms of regulation of S6Ks functional activity and subcellular localization mediated by PKC, CK2 and ROC1 ubiquitin ligase. We discuss the identification and functional analysis of novel isoform of ribosomal protein S6 kinase -S6K2 and of mTOR kinase -mTORb, as well as their oncogenic properties. Identification of CoA synthase responsible for last two steps in CoA biosynthesis and characterization of its interactions with S6K1 and other signaling molecules uncovere a potential link between mTOR/S6K signaling pathway and energy metabolism through regulation of CoA biosynthesis. The data concerning new molecular mechanisms of CoA synthase regulation are presented.

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“…There are two COASY isoforms, produced from alternate splicing. The longer β isoform is brain specific and has an additional proline-rich protein interaction domain but has identical enzymatic activity to the ubiquitous α isoform [54].…”

Section: Coasy and Copanmentioning

confidence: 99%

Review: Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation: unifying theories

Arber

Houlden

et al. 2015

Neuropathology Appl Neurobio

116

108

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Neurodegeneration with brain iron accumulation (NBIA) is a group of disorders characterized by dystonia, parkinsonism and spasticity. Iron accumulates in the basal ganglia and may be accompanied by Lewy bodies, axonal swellings and hyperphosphorylated tau depending on NBIA subtype. Mutations in 10 genes have been associated with NBIA that include Ceruloplasmin (Cp) and ferritin light chain (FTL), both directly involved in iron homeostasis, as well as Pantothenate Kinase 2 (PANK2), Phospholipase A2 group 6 (PLA2G6), Fatty acid hydroxylase 2 (FA2H), Coenzyme A synthase (COASY), C 19orf12, WDR 45 and DCAF 17 (C 2orf37). These genes are involved in seemingly unrelated cellular pathways, such as lipid metabolism, Coenzyme A synthesis and autophagy. A greater understanding of the cellular pathways that link these genes and the disease mechanisms leading to iron dyshomeostasis is needed. Additionally, the major overlap seen between NBIA and more common neurodegenerative diseases may highlight conserved disease processes. In this review, we will discuss clinical and pathological findings for each NBIA‐related gene, discuss proposed disease mechanisms such as mitochondrial health, oxidative damage, autophagy/mitophagy and iron homeostasis, and speculate the potential overlap between NBIA subtypes.

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Identification of a novel CoA synthase isoform, which is primarily expressed in the brain

Cited by 21 publications

References 14 publications

Defective lipid metabolism in neurodegeneration with brain iron accumulation (NBIA) syndromes: not only a matter of iron

Defective lipid metabolism in neurodegeneration with brain iron accumulation (NBIA) syndromes: not only a matter of iron

PI3K/mTOR/S6K signaling pathway – new players and new functional links

Review: Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation: unifying theories

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