Search Results - "Park, Julien H."

Treatment Options in Congenital Disorders of Glycosylation by Park, Julien H., Marquardt, Thorsten

“…Despite advances in the identification and diagnosis of congenital disorders of glycosylation (CDG), treatment options remain limited and are often constrained…”
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SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis by Park, Julien H, Elpers, Christiane, Reunert, Janine, McCormick, Michael L, Mohr, Julia, Biskup, Saskia, Schwartz, Oliver, Rust, Stephan, Grüneberg, Marianne, Seelhöfer, Anja, Schara, Ulrike, Boltshauser, Eugen, Spitz, Douglas R, Marquardt, Thorsten

“…Superoxide dismutase 1 (SOD1) is the principal cytoplasmic superoxide dismutase in humans and plays a major role in redox potential regulation. It catalyses…”
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SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation by Park, Julien H., Hogrebe, Max, Grüneberg, Marianne, DuChesne, Ingrid, von der Heiden, Ava L., Reunert, Janine, Schlingmann, Karl P., Boycott, Kym M., Beaulieu, Chandree L., Mhanni, Aziz A., Innes, A. Micheil, Hörtnagel, Konstanze, Biskup, Saskia, Gleixner, Eva M., Kurlemann, Gerhard, Fiedler, Barbara, Omran, Heymut, Rutsch, Frank, Wada, Yoshinao, Tsiakas, Konstantinos, Santer, René, Nebert, Daniel W., Rust, Stephan, Marquardt, Thorsten

“…SLC39A8 is a membrane transporter responsible for manganese uptake into the cell. Via whole-exome sequencing, we studied a child that presented with cranial…”
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Pathogenic Relationships in Cystic Fibrosis and Renal Diseases: CFTR, SLC26A9 and Anoctamins by Kunzelmann, Karl, Ousingsawat, Jiraporn, Kraus, Andre, Park, Julien H, Marquardt, Thorsten, Schreiber, Rainer, Buchholz, Björn

“…The Cl−-transporting proteins CFTR, SLC26A9, and anoctamin (ANO1; ANO6) appear to have more in common than initially suspected, as they all participate in the…”
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The schizophrenia risk locus in SLC39A8 alters brain metal transport and plasma glycosylation by Mealer, Robert G., Jenkins, Bruce G., Chen, Chia-Yen, Daly, Mark J., Ge, Tian, Lehoux, Sylvain, Marquardt, Thorsten, Palmer, Christopher D., Park, Julien H., Parsons, Patrick J., Sackstein, Robert, Williams, Sarah E., Cummings, Richard D., Scolnick, Edward M., Smoller, Jordan W.

“…A common missense variant in SLC39A8 is convincingly associated with schizophrenia and several additional phenotypes. Homozygous loss-of-function mutations in…”
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Mannose supplementation in PMM2-CDG by Taday, Roman, Park, Julien H, Grüneberg, Marianne, DuChesne, Ingrid, Reunert, Janine, Marquardt, Thorsten

“…Abstract In this response to the letter by Witters et al., we refer to the authors' arguments regarding spontaneous enhancement of glycosylation and the claim,…”
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Transferrin glycosylation analysis from dried blood spot cards and capillary blood samples by Wolking, Anna B., Park, Julien H., Grüneberg, Marianne, Reunert, Janine, Fingerhut, Ralph, Fobker, Manfred, Marquardt, Thorsten

“…Congenital disorders of glycosylation (CDG) are a growing group of inherited diseases causing manifold symptoms. Routine diagnostic procedures are high…”
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Clinical and molecular analysis of a novel variant in heme oxygenase-1 deficiency: Unraveling its role in inflammation, heme metabolism, and pulmonary phenotype by Berendes, Lea-Sophie, Westhoff, Petra Schulze, Wittkowski, Helmut, Seelhöfer, Anja, Varga, Georg, Marquardt, Thorsten, Park, Julien H.

“…Heme oxygenase 1 (HO-1) is the pivotal catalyst for the primary and rate-determining step in heme catabolism, playing a crucial role in mitigating heme-induced…”
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L-Fucose treatment of FUT8-CDG by Park, Julien H., Reunert, Janine, He, Miao, Mealer, Robert G., Noel, Maxence, Wada, Yoshinao, Grüneberg, Marianne, Horváth, Judit, Cummings, Richard D., Schwartz, Oliver, Marquardt, Thorsten

“…FUT8-CDG is a severe multisystem disorder caused by mutations in FUT8, encoding the α-1,6-fucosyltransferase. We report on dizygotic twins with FUT8-CDG…”
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Cystinosis: Therapy adherence and metabolic monitoring in patients treated with immediate-release cysteamine by Linden, Simone, Klank, Sabrina, Harms, Erik, Grüneberg, Marianne, Park, Julien H., Marquardt, Thorsten

“…Cystinosis is a metabolic disease caused by intracellular accumulation of cystine within lysosomes. Development of symptoms can be delayed significantly by a…”
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SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy by Park, Julien H., Hogrebe, Max, Fobker, Manfred, Brackmann, Renate, Fiedler, Barbara, Reunert, Janine, Rust, Stephan, Tsiakas, Konstantinos, Santer, René, Grüneberg, Marianne, Marquardt, Thorsten

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The novel transferrin E592A variant impairs the diagnostics of congenital disorders of glycosylation by Park, Julien H., Zühlsdorf, Andrea, Wada, Yoshinao, Roll, Claudia, Rust, Stephan, Du Chesne, Ingrid, Grüneberg, Marianne, Reunert, Janine, Marquardt, Thorsten

“…The analysis of serum transferrin either by high-performance liquid chromatography (HPLC) or isoelectric focusing (IEF) is the standard diagnostic procedure in…”
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Limitations of galactose therapy in phosphoglucomutase 1 deficiency by Nolting, Kristine, Park, Julien H., Tegtmeyer, Laura C., Zühlsdorf, Andrea, Grüneberg, Marianne, Rust, Stephan, Reunert, Janine, Du Chesne, Ingrid, Debus, Volker, Schulze-Bahr, Eric, Baxter, Robert C., Wada, Yoshinao, Thiel, Christian, van Schaftingen, Emile, Fingerhut, Ralph, Marquardt, Thorsten

“…Phosphoglucomutase 1 deficiency (PGM1 deficiency) has been identified as both, glycogenosis and congenital disorder of glycosylation (CDG). The phenotype…”
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Reply: Not every excessive startle is hyperekplexia, the curious case of SOD1 by Park, Julien H, Elpers, Christiane, Marquardt, Thorsten

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Current global vitamin and cofactor prescribing practices for primary mitochondrial diseases: Results of a European reference network survey by Neugebauer, Julia, Reinson, Karit, Bellusci, Marcello, Park, Julien H., Hikmat, Omar, Bertini, Enrico, Schiff, Manuel, Rahman, Shamima

“…Abstract Primary mitochondrial diseases (PMD) account for a group of approximately 400 different genetic disorders with diverse clinical presentations and…”
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Infantile SOD1 deficiency syndrome caused by a homozygous SOD1 variant with absence of enzyme activity by Ezer, Shlomit, Daana, Muhannad, Park, Julien H, Yanovsky-Dagan, Shira, Nordström, Ulrika, Basal, Adily, Edvardson, Simon, Saada, Ann, Otto, Markus, Meiner, Vardiella, Marklund, Stefan L, Andersen, Peter Munch, Harel, Tamar

“…Pathogenic variants in SOD1, encoding superoxide dismutase 1, are responsible for about 20% of all familial amyotrophic lateral sclerosis cases, through a…”
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Treatment of AICA ribosiduria by suppression of de novo purine synthesis by Park, Julien H., Och, Ulrike, Braun, Tim, Kriegel, Matthias F., Biskup, Saskia, Korall, Herbert, Uhlig, Constantin E., Marquardt, Thorsten

“…AICA ribosiduria is an ultra-rare disorder of de novo purine biosynthesis associated with developmental delay of varying severity, seizures, and varying…”
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Trial of N-Acetyl-l-Leucine in Niemann–Pick Disease Type C by Bremova-Ertl, Tatiana, Ramaswami, Uma, Brands, Marion, Foltan, Tomas, Gautschi, Matthias, Gissen, Paul, Gowing, Francesca, Hahn, Andreas, Jones, Simon, Kay, Richard, Kolnikova, Miriam, Arash-Kaps, Laila, Marquardt, Thorsten, Mengel, Eugen, Park, Julien H., Reichmannová, Stella, Schneider, Susanne A., Sivananthan, Siyamini, Walterfang, Mark, Wibawa, Pierre, Strupp, Michael, Martakis, Kyriakos

“…In Niemann–Pick disease type C, a rare lysosomal storage disorder, treatment with N -acetyl- l -leucine, which may ameliorate lysosomal and metabolic…”
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SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy by Park, Julien H, Hogrebe, Max, Fobker, Manfred, Brackmann, Renate, Fiedler, Barbara, Reunert, Janine, Rust, Stephan, Tsiakas, Konstantinos, Santer, René, Grüneberg, Marianne, Marquardt, Thorsten

“…Purpose SLC39A8 deficiency is a severe inborn error of metabolism that is caused by impaired function of manganese metabolism in humans. Mutations in SLC39A8…”
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Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects by Rujano, Maria A, Cannata Serio, Magda, Panasyuk, Ganna, Péanne, Romain, Reunert, Janine, Rymen, Daisy, Hauser, Virginie, Park, Julien H, Freisinger, Peter, Souche, Erika, Guida, Maria Clara, Maier, Esther M, Wada, Yoshinao, Jäger, Stefanie, Krogan, Nevan J, Kretz, Oliver, Nobre, Susana, Garcia, Paula, Quelhas, Dulce, Bird, Thomas D, Raskind, Wendy H, Schwake, Michael, Duvet, Sandrine, Foulquier, Francois, Matthijs, Gert, Marquardt, Thorsten, Simons, Matias

“…The biogenesis of the multi-subunit vacuolar-type H -ATPase (V-ATPase) is initiated in the endoplasmic reticulum with the assembly of the proton pore V0, which…”
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