Results 111 to 120 of about 167,517,803 (126)

In vivo base editing reduces liver cysts in autosomal dominant polycystic kidney disease. [PDF]

Mol Ther
Ibel A, Bhardwaj R, Yilmaz DE, Kong S, Wendlinger S, Cordero C, Papaioannou D, Papazian M, Schönauer R, Meng Q, Eckardt KU, Hassan F, Volpe I, Klämbt V, Halbritter J, Fedeles S, Krappitz M, Kaminski MM.   +17 more
europepmc   +1 more source

TLR2 Activation Enhances Inflammatory Signaling and Accelerates Cyst Growth and Renal Fibrosis in Polycystic Kidney Disease Mice. [PDF]

Int J Mol Sci
Wei A, Zhang Y, Xu Y, Schneider J, Detterman N, Shu X, Gregersen T, Folch MN, Li Y, Chen S, Zhang Y.   +10 more
europepmc   +1 more source

Systemic gene therapy corrects the neurological phenotype in a mouse model of NGLY1 deficiency. [PDF]

JCI Insight
Du A, Yang K, Zhou X, Ren L, Liu N, Zhou C, Liang J, Yan N, Gao G, Wang D.   +9 more
europepmc   +1 more source

SLC10A7 regulates O-GalNAc glycosylation and Ca²⁺ homeostasis in the secretory pathway: insights into SLC10A7-CDG. [PDF]

Cell Mol Life Sci
Durin Z, Layotte A, Morelle W, Houdou M, Folcher A, Legrand D, Lefeber D, Prevarskaya N, Von Blume J, Cormier-Daire V, Foulquier F.   +10 more
europepmc   +1 more source

Genomic analysis in Chilean patients with suspected Rett syndrome: keep a broad differential diagnosis. [PDF]

Front Genet
Brito F, Lagos C, Cubillos J, Orellana J, Gajardo M, Böhme D, Encina G, Repetto GM.   +7 more
europepmc   +1 more source

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Acute liver failure in a male patient with NGLY1-congenital disorder of deglycosylation

European Journal of Medical Genetics, 2020
Congenital disorder of N-linked deglycosylation (CDDG, MIM 615273) is a very rare autosomal recessive disorder caused by pathogenic variants in the NGLY1 gene. Transient transaminitis is the typical hepatic dysfunction described in these patients, but also included neonatal jaundice, hepatomegaly, splenomegaly, and steatosis.
Izabel Maryalexandra, Rios-Flores, Miguel Ángel, Bonal-Pérez, Abril, Castellanos-González, Ezequiel, Velez-Gómez, Aida M, Bertoli-Avella, Lucina, Bobadilla-Morales, Christian, Peña-Padilla, Valentina, Appendini-Andrade, Alfredo, Corona-Rivera, Ivón, Romero-Valenzuela, Jorge Román, Corona-Rivera   +10 more
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Glycoproteomics of N‐glycosylation by in‐gel deglycosylation and matrix‐assisted laser desorption/ionisation‐time of flight mass spectrometry mapping: Application to congenital disorders of glycosylation

PROTEOMICS, 2005
AbstractA general strategy for the structural evaluation of N‐glycosylation, a common post‐translational protein modification, is presented. The methods for the release of N‐linked glycans from the gel‐separated proteins, their isolation, purification and matrix‐assisted laser desorption/ionisation‐mass spectrometry (MALDI‐MS) analysis of their ...
Dijana, Sagi, Petra, Kienz, Jonas, Denecke, Thorsten, Marquardt, Jasna, Peter-Katalinić   +4 more
openaire   +2 more sources

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An Induced Pluripotent Stem Cell-Derived Neuromuscular Junction Platform for Study of the NGLY1-Congenital Disorder of Deglycosylation

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Acute liver failure in a male patient with -congenital disorder of deglycosylation

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