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> Larson Göran 1953
> Mizumoto Shuji >
Alterations in glyc...
Alterations in glycosaminoglycan biosynthesis associated with the Ehlers-Danlos syndromes.
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Syx, Delfien (författare)
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Delbaere, Sarah (författare)
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Bui, Catherine (författare)
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visa fler...
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De Clercq, Adelbert (författare)
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- Larson, Göran, 1953 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för laboratoriemedicin,Department of Laboratory Medicine
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Mizumoto, Shuji (författare)
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Kosho, Tomoki (författare)
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Fournel-Gigleux, Sylvie (författare)
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Malfait, Fransiska (författare)
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(creator_code:org_t)
- American Physiological Society, 2022
- 2022
- Engelska.
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Ingår i: American journal of physiology. Cell physiology. - : American Physiological Society. - 1522-1563 .- 0363-6143. ; 323:6, s. C1843-C1859
- Relaterad länk:
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- Proteoglycans consist of a core protein substituted with one or more glycosaminoglycan (GAG) chains and execute versatile functions during many physiological and pathological processes. The biosynthesis of GAG chains is a complex process that depends on the concerted action of a variety of enzymes. Central to the biosynthesis of heparan sulfate (HS) and chondroitin sulfate/dermatan sulfate (CS/DS) GAG chains is the formation of a tetrasaccharide linker region followed by biosynthesis of HS or CS/DS-specific repeating disaccharide units, which then undergo modifications and epimerization. The importance of these biosynthetic enzymes is illustrated by several severe pleiotropic disorders that arise upon their deficiency. The Ehlers-Danlos syndromes (EDS) constitute a special group among these disorders. Although most EDS types are caused by defects in fibrillar types I, III, or V collagen, or their modifying enzymes, a few rare EDS types have recently been linked to defects in GAG biosynthesis. Spondylodysplastic EDS (spEDS) is caused by defective formation of the tetrasaccharide linker region, either due to β4GalT7 or β3GalT6 deficiency, whereas musculocontractural EDS (mcEDS) results from deficiency of D4ST1 or DS-epi1, impairing DS formation. This narrative review highlights the consequences of GAG deficiency in these specific EDS types, summarizes the associated phenotypic features and the molecular spectrum of reported pathogenic variants, and defines the current knowledge on the underlying pathophysiological mechanisms based on studies in patient-derived material, in vitro analyses, and animal models.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Klinisk laboratoriemedicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Clinical Laboratory Medicine (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Pediatrik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Pediatrics (hsv//eng)
Nyckelord
- Animals
- Dermatan Sulfate
- metabolism
- Sulfotransferases
- metabolism
- Ehlers-Danlos Syndrome
- genetics
- metabolism
- pathology
- Collagen
- metabolism
- Proteoglycans
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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- Av författaren/redakt...
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Syx, Delfien
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Delbaere, Sarah
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Bui, Catherine
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De Clercq, Adelb ...
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Larson, Göran, 1 ...
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Mizumoto, Shuji
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visa fler...
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Kosho, Tomoki
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Fournel-Gigleux, ...
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Malfait, Fransis ...
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visa färre...
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Göteborgs universitet