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Your search keyword '"Ebert, Berit"' showing total 14 results
Start Over Author "Ebert, Berit" Publisher oxford university press (oup)
14 results on '"Ebert, Berit"'

3. A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia

Author

Rautengarten, Carsten, Quarrell, Oliver W, Stals, Karen, Caswell, Richard C, De Franco, Elisa, Baple, Emma, Burgess, Nadia, Jokhi, Roobin, Heazlewood, Joshua L, Offiah, Amaka C, Ebert, Berit, and Ellard, Sian

Subjects
Male, Heterozygote, Monosaccharide Transport Proteins, Mutation, Missense, Endoplasmic Reticulum, Osteochondrodysplasias, Schneckenbecken dysplasia, radiology, Fetal Diseases, Mice, nucleotide sugar transporters, Loss of Function Mutation, Animals, Humans, genetics, Female, General Article, Alleles, SLC35D1
Abstract

We report the case of a consanguineous couple who lost four pregnancies associated with skeletal dysplasia. Radiological examination of one fetus was inconclusive. Parental exome sequencing showed that both parents were heterozygous for a novel missense variant, p.(Pro133Leu), in the SLC35D1 gene encoding a nucleotide sugar transporter. The affected fetus was homozygous for the variant. The radiological features were reviewed, and being similar, but atypical, the phenotype was classified as a ‘Schneckenbecken-like dysplasia.’ The effect of the missense change was assessed using protein modelling techniques and indicated alterations in the mouth of the solute channel. A detailed biochemical investigation of SLC35D1 transport function and that of the missense variant p.(Pro133Leu) revealed that SLC35D1 acts as a general UDP-sugar transporter and that the p.(Pro133Leu) mutation resulted in a significant decrease in transport activity. The reduced transport activity observed for p.(Pro133Leu) was contrasted with in vitro activity for SLC35D1 p.(Thr65Pro), the loss-of-function mutation was associated with Schneckenbecken dysplasia. The functional classification of SLC35D1 as a general nucleotide sugar transporter of the endoplasmic reticulum suggests an expanded role for this transporter beyond chondroitin sulfate biosynthesis to a variety of important glycosylation reactions occurring in the endoplasmic reticulum.

Published
2019

4. The Three Members of the Arabidopsis Glycosyltransferase Family 92 are Functional β-1,4-Galactan Synthases

Author

Ebert, Berit, primary, Birdseye, Devon, additional, Liwanag, April J M, additional, Laursen, Tomas, additional, Rennie, Emilie A, additional, Guo, Xiaoyuan, additional, Catena, Michela, additional, Rautengarten, Carsten, additional, Stonebloom, Solomon H, additional, Gluza, Pawel, additional, Pidatala, Venkataramana R, additional, Andersen, Mathias C F, additional, Cheetamun, Roshan, additional, Mortimer, Jenny C, additional, Heazlewood, Joshua L, additional, Bacic, Antony, additional, Clausen, Mads H, additional, Willats, William G T, additional, and Scheller, Henrik V, additional

Published
2018
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5. Three UDP-xylose transporters participate in xylan biosynthesis by conveying cytosolic UDP-xylose into the Golgi lumen in Arabidopsis

Author

Zhao, Xianhai, primary, Liu, Nian, additional, Shang, Na, additional, Zeng, Wei, additional, Ebert, Berit, additional, Rautengarten, Carsten, additional, Zeng, Qing-Yin, additional, Li, Huiling, additional, Chen, Xiaoyang, additional, Beahan, Cherie, additional, Bacic, Antony, additional, Heazlewood, Joshua L, additional, and Wu, Ai-Min, additional

Published
2017
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6. UUAT1 Is a Golgi-Localized UDP-Uronic Acid Transporter That Modulates the Polysaccharide Composition of Arabidopsis Seed Mucilage

Author

Saez-Aguayo, Susana, primary, Rautengarten, Carsten, additional, Temple, Henry, additional, Sanhueza, Dayan, additional, Ejsmentewicz, Troy, additional, Sandoval-Ibañez, Omar, additional, Doñas, Daniela, additional, Parra-Rojas, Juan Pablo, additional, Ebert, Berit, additional, Lehner, Arnaud, additional, Mollet, Jean-Claude, additional, Dupree, Paul, additional, Scheller, Henrik V., additional, Heazlewood, Joshua L., additional, Reyes, Francisca C., additional, and Orellana, Ariel, additional

Published
2017
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8. Identification and Characterization of a Golgi-Localized UDP-Xylose Transporter Family from Arabidopsis

Author

Ebert, Berit, primary, Rautengarten, Carsten, additional, Guo, Xiaoyuan, additional, Xiong, Guangyan, additional, Stonebloom, Solomon, additional, Smith-Moritz, Andreia M., additional, Herter, Thomas, additional, Chan, Leanne Jade G., additional, Adams, Paul D., additional, Petzold, Christopher J., additional, Pauly, Markus, additional, Willats, William G.T., additional, Heazlewood, Joshua L., additional, and Scheller, Henrik Vibe, additional

Published
2015
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9. Identification of a Sphingolipid α-Glucuronosyltransferase That Is Essential for Pollen Function inArabidopsis

Author

Rennie, Emilie A., primary, Ebert, Berit, additional, Miles, Godfrey P., additional, Cahoon, Rebecca E., additional, Christiansen, Katy M., additional, Stonebloom, Solomon, additional, Khatab, Hoda, additional, Twell, David, additional, Petzold, Christopher J., additional, Adams, Paul D., additional, Dupree, Paul, additional, Heazlewood, Joshua L., additional, Cahoon, Edgar B., additional, and Scheller, Henrik Vibe, additional

Published
2014
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10. Overexpression of a BAHD Acyltransferase, OsAt10, Alters Rice Cell Wall Hydroxycinnamic Acid Content and Saccharification

Author

Bartley, Laura E., primary, Peck, Matthew L., additional, Kim, Sung-Ryul, additional, Ebert, Berit, additional, Manisseri, Chithra, additional, Chiniquy, Dawn M., additional, Sykes, Robert, additional, Gao, Lingfang, additional, Rautengarten, Carsten, additional, Vega-Sánchez, Miguel E., additional, Benke, Peter I., additional, Canlas, Patrick E., additional, Cao, Peijian, additional, Brewer, Susan, additional, Lin, Fan, additional, Smith, Whitney L., additional, Zhang, Xiaohan, additional, Keasling, Jay D., additional, Jentoff, Rolf E., additional, Foster, Steven B., additional, Zhou, Jizhong, additional, Ziebell, Angela, additional, An, Gynheung, additional, Scheller, Henrik V., additional, and Ronald, Pamela C., additional

Published
2013
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12. ArabidopsisDeficient in Cutin FerulateEncodes a Transferase Required for Feruloylation of ω-Hydroxy Fatty Acids in Cutin Polyester

Author

Rautengarten, Carsten, primary, Ebert, Berit, additional, Ouellet, Mario, additional, Nafisi, Majse, additional, Baidoo, Edward E.K., additional, Benke, Peter, additional, Stranne, Maria, additional, Mukhopadhyay, Aindrila, additional, Keasling, Jay D., additional, Sakuragi, Yumiko, additional, and Scheller, Henrik Vibe, additional

Published
2011
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