Surprising news: a putative sulfate transporter is defective in Pendred's syndrome

Rutishauser, Jonas; Kopp, Peter

doi:10.1530/eje.0.1380623

Cited by 9 publications

(4 citation statements)

References 17 publications

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“…These applications include catalysis, 52,120–125 solar energy harvesting dyes , 3,35,71,127-130 sensors , 38 and tracers . The multifunctional properties are modulated by appending various chemical moieties on the periphery of the macrocycles using nucleophilic aromatic substitution chemistry and by varying the core metal.…”

Section: Substituted Fluorinated Porphyrinoids For Application In Matmentioning

confidence: 99%

“…148,149 Diseases such as osteoporosis, Alzheimer’s, and cystic fibrosis are caused by perturbations in anion fluxes across cell membranes. 150-152 Anions including cyanide and arsenate are considered a threat when present in the environment, which leads to a need for systems capable of controlling and monitoring these species. 153 MetalloPors with metals such as zinc, rhodium, silver, gold or copper can be used as cyanide sensors because of the essential affinity of cyanide to these metals.…”

Section: Substituted Fluorinated Porphyrinoids For Application In Matmentioning

confidence: 99%

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Fluorinated porphyrinoids as efficient platforms for new photonic materials, sensors, and therapeutics

et al. 2016

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Porphyrinoids are robust heterocyclic dyes studied extensively for their applications in medicine and as photonic materials because of their tunable photophysical properties, diverse means of modifying the periphery, and the ability to chelate most transition metals. Commercial applications include their use as phthalocyanine dyes in optical discs, porphyrins in photodynamic therapy, and as oxygen sensors. Most applications of these dyes require exocyclic moieties to improve solubility, target diseases, modulate photophysical properties, or direct the self-organization into architectures with desired photonic properties. The synthesis of the porphyrinoid depends on the desired application, but the de novo synthesis often involves several steps, is time consuming, and results in low isolated yields. Thus, the application of core porphyrinoid platforms that can be rapidly and efficiently modified to evaluate new molecular architectures allows researchers to focus on the design concepts rather than the synthesis methods, and opens porphyrinoid chemistry to a broader scientific community. We have focused on several widely available, commercially viable porphyrinoids as platforms: meso-perfluorophenylporphyrin, perfluoro-phthalocyanine, and meso-perfluorophenylcorrole. The perfluorophenylporphyrin is readily converted to the chlorin, bacteriochlorin, and isobacteriochlorin. Derivatives of all six of these core platforms can be efficiently and controllably made via mild nucleophilic aromatic substitution reactions using primary S, N, and O nucleophiles bearing a wide variety of functional groups. The remaining fluoro groups enhance the photo and oxidative stability of the dyes and can serve as spectroscopic signatures to characterize the compounds or in imaging applications using 19F NMR. This review provides an overview of the chemistry of fluorinated porphyrinoids that are being used as a platform to create libraries of photo-active compounds for applications in medicine and materials.

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Section: Substituted Fluorinated Porphyrinoids For Application In Matmentioning

confidence: 99%

Section: Substituted Fluorinated Porphyrinoids For Application In Matmentioning

confidence: 99%

Fluorinated porphyrinoids as efficient platforms for new photonic materials, sensors, and therapeutics

et al. 2016

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“…Interestingly, Pendred's syndrome (sporadic goiter with impaired iodine organification and congenital sensorineural deafness) is an autosomal recessive disorder caused by a mutated gene located on chromosome 7q22-31.1. The Pendred syndrome gene, which produces a transcript that is expressed in the thyroid, the inner ear, and the kidney (30,31), was originally thought to be a sulfate transporter gene (32), because the predicted protein, pendrin, has high homology to several sulfate transporters found in yeast, plants, and animals (30). Subsequently, however, it was shown that pendrin, which belongs to a large family of anion transporters (32), functions as a transporter of chloride and iodide but not sulfate (33).…”

Section: B Paps Synthesismentioning

confidence: 99%

Sulfonation and Molecular Action

2002

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The sulfonation of endogenous molecules is a pervasive biological phenomenon that is not always easily understood, and although it is increasingly recognized as a function of fundamental importance, there remain areas in which significant cognizance is still lacking or at most minimal. This is particularly true in the field of endocrinology, in which the sulfoconjugation of hormones is a widespread occurrence that is only partially, if at all, appreciated. In the realm of steroid/sterol sulfoconjugation, the discovery of a novel gene that utilizes an alternative exon 1 to encode for two sulfotransferase isoforms, one of which sulfonates cholesterol and the other pregnenolone, has been an important advance. This is significant because cholesterol sulfate plays a crucial role in physiological systems such as keratinocyte differentiation and development of the skin barrier, and pregnenolone sulfate is now acknowledged as an important neurosteroid. The sulfonation of thyroglobulin and thyroid hormones has been extensively investigated and, although this transformation is better understood, there remain areas of incomplete comprehension. The sulfonation of catecholamines is a prevalent modification that has been extensively studied but, unfortunately, remains poorly understood. The sulfonation of pituitary glycoprotein hormones, especially LH and TSH, does not affect binding to their cognate receptors; however, sulfonation does play an important role in their plasma clearance, which indirectly has a significant effect on biological activity. On the other hand, the sulfonation of distinct neuroendocrine peptides does have a profound influence on receptor binding and, thus, a direct effect on biological activity. The sulfonation of specific extracellular structures plays an essential role in the binding and signaling of a large family of extracellular growth factors. In summary, sulfonation is a ubiquitous posttranslational modification of hormones and extracellular components that can lead to dramatic structural changes in affected molecules, the biological significance of which is now beginning to be appreciated.

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“…Pendrin is an86kDa protein with 13 putative transmembranedomains with both the amino-and carboxy-terminilocated inside the cytosol (8,(17)(18)(19) (22,23). In addition to Pendred syndrome, mutations of this gene are also responsible for non-syndromic recessive deafness (NSRD) with enlarged vestibular aqueduct (EVA), or Mondini dysplasia (24).…”

Section: Etiologymentioning

confidence: 99%

Pendred Syndrome and Role of Pendrin on Thyroid Physiology

2022

NSJ

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Background: Pendred syndrome (PS) is an autosomal recessive disorder characterized by sensorineural hearing impairment, presence of goiter, and a partial defect in iodide organification (PIOD), which may be associated with insufficient thyroid hormone synthesis. Mutations in the SLC26A4/PDS gene are found in patients with PS. Goiter development and developments of hypothyroidism are variable and depend on nutritional iodide intake. Moreover, PS may present with goiter, hypothyroidism, and a positive perchlorate test, a definite etiologic diagnosis is impossible without molecular diagnosis in individuals who have a concomitant hearing impairment. Etiology: Pendred syndrome (OMIM 274600) occurs due to biallelic inactivating mutations in the Pendrin gene (PDS/SLC26A4), which encodes Pendrinprotein. The SLC26A4 gene has been mapped to chromosome 7q22.3 in 1996. Epidemiology:The prevalence of Pendred syndrome has been estimated to be between 7.5 and 10 per 100,000 individuals. More importantly, Pendred syndrome accounts for to up to 10% of hereditary deafness cases.Pathophysiology: Pendrin is mainly expressed in tissues as diverse as the thyroid, the inner ear, the kidney, airways, mammary gland, testis, placenta, endometrium and liver. The localization and specific function of pendrin particularly in the thyroid gland, inner ear and kidney are well described.

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Surprising news: a putative sulfate transporter is defective in Pendred's syndrome

Cited by 9 publications

References 17 publications

Fluorinated porphyrinoids as efficient platforms for new photonic materials, sensors, and therapeutics

Fluorinated porphyrinoids as efficient platforms for new photonic materials, sensors, and therapeutics

Sulfonation and Molecular Action

Pendred Syndrome and Role of Pendrin on Thyroid Physiology

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