<i>DHCR7</i> mutations causing the Smith—Lemli—Opitz syndrome

Witsch‐Baumgartner, Martina

doi:10.2217/17460875.3.5.585

Cited by 4 publications

(2 citation statements)

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“…The relative contributions of these two pathways are stringently controlled depending on tissue-type and age . Interestingly, the accumulation of cholesterol biosynthetic precursors is implicated in severe pathophysiological conditions. , For example, accumulation of 7-DHC is associated with Smith–Lemli–Opitz syndrome, a manifestation of defective cholesterol biosynthesis that results in growth impairment and mental retardation. − In terms of the evolution of sterol structures, ergosterol represents an important evolutionary precursor of cholesterol and is the major sterol found in lower eukaryotes such as protozoa, fungi, yeast, and insects such as Drosophila . The chemical structure of ergosterol differs from that of cholesterol in two additional double bonds (at 7 th and 22 nd positions) and an extra methyl group at the 24 th position of the side chain (see Figure a).…”

Section: Role Of Cholesterol In Modulating Dipole Potentialmentioning

confidence: 99%

Membrane Dipole Potential: An Emerging Approach to Explore Membrane Organization and Function

Sarkar

Chattopadhyay

2022

J. Phys. Chem. B

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Biological membranes are complex organized molecular assemblies of lipids and proteins that provide cells and membrane-bound intracellular organelles their individual identities by morphological compartmentalization. Membrane dipole potential originates from the electrostatic potential difference within the membrane due to the nonrandom arrangement (orientation) of amphiphile and solvent (water) dipoles at the membrane interface. In this Feature Article, we will focus on the measurement of dipole potential using electrochromic fluorescent probes and highlight interesting applications. In addition, we will focus on ratiometric fluorescence microscopic imaging technique to measure dipole potential in cellular membranes, a technique that can be used to address novel problems in cell biology which are otherwise difficult to address using available approaches. We envision that membrane dipole potential could turn out to be a convenient tool in exploring the complex interplay between membrane lipids and proteins and could provide novel insights in membrane organization and function.

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Section: Role Of Cholesterol In Modulating Dipole Potentialmentioning

confidence: 99%

Membrane Dipole Potential: An Emerging Approach to Explore Membrane Organization and Function

Sarkar

Chattopadhyay

2022

J. Phys. Chem. B

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“…A major consequence of these biochemical abnormalities is the alteration of normal embryonic and fetal somatic development, resulting in postnatal abnormalities of growth, learning, language and behavior. SLO syndrome is easily recognized with the application of GC-MS technique [15]. …”

Section: Coupled Techniques In Other Current Medical Diagnoses Of Dismentioning

confidence: 99%

Current medical research with the application of coupled techniques with mass spectrometry

Kałużna–Czaplińska

2011

Med Sci Monit

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SummaryThe most effective methods of analysis of organic compounds in biological fluids are coupled chromatographic techniques. Capillary gas chromatography/mass spectrometry (GC-MS) allows the most efficient separation, identification and quantification of volatile metabolites in biological fluids. Liquid chromatography-mass spectrometry (LC-MS) is especially suitable for the analysis of non-volatile and/or thermally unstable compounds. A major drawback of liquid chromatography-mass spectrometry is that no standard spectral libraries such as NIST and Wiley for GC-MS are available to facilitate the identification of unknown compounds. Moreover, the identification of potential new compounds, especially new biomarkers in LC-MS, is much more challenging than in GC-MS. Capillary electrophoresis coupled with mass spectrometry (CE-MS) has been widely used to characterize metabolomes. Capillary electrophoresis is a powerful technique for the separation of charged metabolites, offering high analyte resolution. The advantages of CE-MS are applicability for hydrophilic metabolites, robust separation efficiency and short duration of analysis.This review provides an overview of current chromatographic methods – gas chromatography – mass spectrometry, liquid chromatography – mass spectrometry and capillary electrophoresis-mass spectrometry – and their applications in current medical research. The focus is on the description of metabonomics research, strategies for biomarkers identification, medical diagnoses of diseases and research of drugs.

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Structural Stringency and Optimal Nature of Cholesterol Requirement in the Function of the Serotonin1A Receptor

et al. 2020

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DHCR7 mutations causing the Smith—Lemli—Opitz syndrome

Cited by 4 publications

References 60 publications

Membrane Dipole Potential: An Emerging Approach to Explore Membrane Organization and Function

Membrane Dipole Potential: An Emerging Approach to Explore Membrane Organization and Function

Current medical research with the application of coupled techniques with mass spectrometry

Structural Stringency and Optimal Nature of Cholesterol Requirement in the Function of the Serotonin1A Receptor

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