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Dietary plant stanol ester supplementation reduces peripheral symptoms in a mouse model of Niemann-Pick type C1 disease.

Inês Magro Dos Reis, Tom Houben, Yvonne Oligschläger, Leoni Bücken, Hellen Steinbusch, David Cassiman, Dieter Luetjohann, Marit Westerterp, Jos Prickaerts, Jogchum Plat, Ronit Shiri-Sverdlov,

Niemann-Pick type C1 (NPC1) disease is a rare genetic condition in which the function of the lysosomal cholesterol transporter NPC1 protein is impaired. Consequently, sphingolipids and cholesterol accumulate in lysosomes of all tissues, triggering a cascade of pathological events that culminate in severe systemic and neurological symptoms. Lysosomal cholesterol accumulation ... Read more >>

J. Lipid Res. (Journal of lipid research)
[2020, :]

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m.3243A > G-Induced Mitochondrial Dysfunction Impairs Human Neuronal Development and Reduces Neuronal Network Activity and Synchronicity.

Teun M Klein Gunnewiek, Eline J H Van Hugte, Monica Frega, Gemma Solé Guardia, Katharina Foreman, Daan Panneman, Britt Mossink, Katrin Linda, Jason M Keller, Dirk Schubert, David Cassiman, Richard Rodenburg, Noemi Vidal Folch, Devin Oglesbee, Ester Perales-Clemente, Timothy J Nelson, Eva Morava, Nael Nadif Kasri, Tamas Kozicz,

Epilepsy, intellectual and cortical sensory deficits, and psychiatric manifestations are the most frequent manifestations of mitochondrial diseases. How mitochondrial dysfunction affects neural structure and function remains elusive, mostly because of a lack of proper in vitro neuronal model systems with mitochondrial dysfunction. Leveraging induced pluripotent stem cell technology, we differentiated excitatory ... Read more >>

Cell Rep (Cell reports)
[2020, 31(3):107538]

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Two cases of non-alcoholic fatty liver disease caused by biallelic ABHD5 mutations.

Isabelle Adant, Mathias Declercq, Matthew Bird, Marijke Bauters, Nancy Boeckx, Koen Devriendt, David Cassiman, Peter Witters,

J. Hepatol. (Journal of hepatology)
[2020, 72(5):1030-1032]

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Dietary practices in methylmalonic acidaemia: a European survey.

Alex Pinto, Sharon Evans, Anne Daly, Manuela Ferreira Almeida, Murielle Assoun, Amaya Belanger-Quintana, Silvia Maria Bernabei, Sandra Bollhalder, David Cassiman, Helena Champion, Heidi Chan, Karen Corthouts, Jaime Dalmau, Foekje de Boer, Corinne De Laet, An de Meyer, An Desloovere, Alice Dianin, Marjorie Dixon, Katharina Dokoupil, Sandrine Dubois, Francois Eyskens, Ana Faria, Ilaria Fasan, Elisabeth Favre, François Feillet, Anna Fekete, Giorgia Gallo, Cerys Gingell, Joanna Gribben, Kit Kaalund Hansen, Nienke Ter Horst, Camille Jankowski, Renske Janssen-Regelink, Ilana Jones, Catherine Jouault, Gudrun Elise Kahrs, Irene Kok, Agnieszka Kowalik, Catherine Laguerre, Sandrine Le Verge, Alessandra Liguori, Rina Lilje, Cornelia Maddalon, Doris Mayr, Uta Meyer, Avril Micciche, Ulrike Och, Martine Robert, Júlio César Rocha, Hazel Rogozinski, Carmen Rohde, Kathleen Ross, Isabelle Saruggia, Andrea Schlune, Kath Singleton, Elisabeth Sjoqvist, Rachel Skeath, Linn Helene Stolen, Allyson Terry, Corrie Timmer, Lyndsey Tomlinson, Alison Tooke, Kristel Vande Kerckhove, Esther van Dam, Dorine van den Hurk, Liesbeth van der Ploeg, Marleen van Driessche, Margreet van Rijn, Annemiek van Wegberg, Carla Vasconcelos, Helle Vestergaard, Isidro Vitoria, Diana Webster, Fiona White, Lucy White, Heidi Zweers, Anita MacDonald,

Background The dietary management of methylmalonic acidaemia (MMA) is a low-protein diet providing sufficient energy to avoid catabolism and to limit production of methylmalonic acid. The goal is to achieve normal growth, good nutritional status and the maintenance of metabolic stability. Aim To describe the dietary management of patients with ... Read more >>

J. Pediatr. Endocrinol. Metab. (Journal of pediatric endocrinology & metabolism : JPEM)
[2020, 33(1):147-155]

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Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis.

Stijn L M In 't Groen, Douglas O S de Faria, Alessandro Iuliano, Johanna M P van den Hout, Hannie Douben, Trijnie Dijkhuizen, David Cassiman, Peter Witters, Miguel-Ángel Barba Romero, Annelies de Klein, Galhana M Somers-Bolman, Jasper J Saris, Lies H Hoefsloot, Ans T van der Ploeg, Atze J Bergsma, W W M Pim Pijnappel,

Pompe disease is a metabolic disorder caused by a deficiency of the glycogen-hydrolyzing lysosomal enzyme acid α-glucosidase (GAA), which leads to progressive muscle wasting. This autosomal-recessive disorder is the result of disease-associated variants located in the GAA gene. In the present study, we performed extended molecular diagnostic analysis to identify ... Read more >>

Mol Ther Methods Clin Dev (Molecular therapy. Methods & clinical development)
[2020, 17:337-348]

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Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients.

Kimber van Vliet, Willem G van Ginkel, Rianne Jahja, Anne Daly, Anita MacDonald, Corinne De Laet, Roshni Vara, Yusof Rahman, David Cassiman, Francois Eyskens, Corrie Timmer, Nicky Mumford, Jörgen Bierau, Peter M van Hasselt, Paul Gissen, Philippe J Goyens, Patrick J McKiernan, Gisela Wilcox, Andrew A M Morris, Elisabeth A Jameson, Stephan C J Huijbregts, Francjan J van Spronsen,

BACKGROUND:Treatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) and dietary phenylalanine and tyrosine restriction improves physical health and life expectancy in Tyrosinemia type 1 (TT1). However, neurocognitive outcome is suboptimal. This study aimed to investigate behavior problems and health-related quality of life (HR-QoL) in NTBC-dietary-treated TT1 and to relate this to phenylalanine and tyrosine ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2019, 14(1):285]

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Patients With Aldolase B Deficiency Are Characterized by Increased Intrahepatic Triglyceride Content.

Nynke Simons, François-Guillaume Debray, Nicolaas C Schaper, M Eline Kooi, Edith J M Feskens, Carla E M Hollak, Lucas Lindeboom, Ger H Koek, Judith A P Bons, Dirk J Lefeber, Leanne Hodson, Casper G Schalkwijk, Coen D A Stehouwer, David Cassiman, Martijn C G J Brouwers,

CONTEXT:There is an ongoing debate about whether and how fructose is involved in the pathogenesis of nonalcoholic fatty liver disease (NAFLD). A recent experimental study showed an increased intrahepatic triglyceride (IHTG) content in mice deficient for aldolase B (aldo B-/-), the enzyme that converts fructose-1-phosphate to triose phosphates. OBJECTIVE:To translate ... Read more >>

J. Clin. Endocrinol. Metab. (The Journal of clinical endocrinology and metabolism)
[2019, 104(11):5056-5064]

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Oxygraphy Versus Enzymology for the Biochemical Diagnosis of Primary Mitochondrial Disease.

Matthew J Bird, Isabelle Adant, Petra Windmolders, Ingrid Vander Elst, Catarina Felgueira, Ruqaiah Altassan, Sarah C Gruenert, Bart Ghesquière, Peter Witters, David Cassiman, Pieter Vermeersch,

Primary mitochondrial disease (PMD) is a large group of genetic disorders directly affecting mitochondrial function. Although next generation sequencing technologies have revolutionized the diagnosis of these disorders, biochemical tests remain essential and functional confirmation of the critical genetic diagnosis. While enzymological testing of the mitochondrial oxidative phosphorylation (OXPHOS) complexes remains ... Read more >>

Metabolites (Metabolites)
[2019, 9(10):]

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Obstructive sleep apnea in Hutchinson-Gilford progeria.

Bertien Buyse, David Cassiman, Dries Testelmans,

Sleep Med. (Sleep Medicine)
[2020, 66:21-23]

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Clinical and biochemical footprints of inherited metabolic diseases. II. Metabolic liver diseases.

Carlos R Ferreira, David Cassiman, Nenad Blau,

Inherited metabolic diseases account for about one third of pediatric patients with hepatomegaly, acute liver failure, cirrhosis or cholestasis. Specifically for pediatric acute liver failure, they account for 10-15% of cases, with a mortality of 22-65%. The percentage of acute liver failure caused by an inherited metabolic disease in children ... Read more >>

Mol. Genet. Metab. (Molecular Genetics and Metabolism)
[2019, 127(2):117-121]

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Correction: The ribosomal RPL10 R98S mutation drives IRES-dependent BCL-2 translation in T-ALL.

Kim R Kampen, Sergey O Sulima, Benno Verbelen, Tiziana Girardi, Stijn Vereecke, Laura Fancello, Gianmarco Rinaldi, Jelle Verbeeck, Joyce Op de Beeck, Anne Uyttebroeck, Jules P P Meijerink, Anthony V Moorman, Christine J Harrison, Pieter Spincemaille, Jan Cools, David Cassiman, Sarah-Maria Fendt, Pieter Vermeersch, Kim De Keersmaecker,

Following the publication of this article, the authors noted that Dr Laura Fancello was not listed among the authors. The corrected author list is given below. Additionally, the following was not included in the author contribution statement: 'L.F. analyzed RNA sequencing data'. ... Read more >>

Leukemia (Leukemia)
[2019, 33(4):1055-1062]

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Age Matching of Elderly Liver Grafts With Elderly Recipients Does Not Have a Synergistic Effect on Long-term Outcomes When Both Are Carefully Selected.

Nicholas Gilbo, Ina Jochmans, Mauricio Sainz-Barriga, Frederik Nevens, Schalk van der Merwe, Wim Laleman, Chris Verslype, David Cassiman, Len Verbeke, Hannah van Malenstein, Tania Roskams, Jacques Pirenne, Diethard Monbaliu,

Background:Older donors and recipients are increasingly considered for liver transplantation. Both donor and recipient age have a negative impact on outcomes. Large registry analyses show that older donors are frequently matched to older recipients. Whether age-related risks accumulate in a synergic negative effect on outcomes because of donor-recipient age matching ... Read more >>

Transplant Direct (Transplantation direct)
[2019, 5(4):e342]

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Case Report of Gastrointestinal Bleeding in an Adult with Chronic Visceral Acid Sphingomyelinase Deficiency.

David Cassiman, Louis Libbrecht, Wouter Meersseman, Alexander Wilmer,

Introduction:Acid sphingomyelinase deficiency (ASMD, also known as Niemann-Pick Type A and Type B disease) is a rare, inherited metabolic disorder. Liver-related issues, including cirrhosis and variceal haemorrhage, are a leading cause of early mortality in individuals with chronic forms of ASMD. Due to the rarity of this lysosomal storage disorder, ... Read more >>

Case Rep Gastrointest Med (Case reports in gastrointestinal medicine)
[2019, 2019:9613457]

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International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.

Ruqaiah Altassan, Romain Péanne, Jaak Jaeken, Rita Barone, Muad Bidet, Delphine Borgel, Sandra Brasil, David Cassiman, Anna Cechova, David Coman, Javier Corral, Joana Correia, María Eugenia de la Morena-Barrio, Pascale de Lonlay, Vanessa Dos Reis, Carlos R Ferreira, Agata Fiumara, Rita Francisco, Hudson Freeze, Simone Funke, Thatjana Gardeitchik, Matthijs Gert, Muriel Girad, Marisa Giros, Stephanie Grünewald, Trinidad Hernández-Caselles, Tomas Honzik, Marlen Hutter, Donna Krasnewich, Christina Lam, Joy Lee, Dirk Lefeber, Dorinda Marques-de-Silva, Antonio F Martinez, Hossein Moravej, Katrin Õunap, Carlota Pascoal, Tiffany Pascreau, Marc Patterson, Dulce Quelhas, Kimiyo Raymond, Peymaneh Sarkhail, Manuel Schiff, Małgorzata Seroczyńska, Mercedes Serrano, Nathalie Seta, Jolanta Sykut-Cegielska, Christian Thiel, Federic Tort, Mari-Anne Vals, Paula Videira, Peter Witters, Renate Zeevaert, Eva Morava,

Phosphomannomutase 2 (PMM2-CDG) is the most common congenital disorder of N-glycosylation and is caused by a deficient PMM2 activity. The clinical presentation and the onset of PMM2-CDG vary among affected individuals ranging from a severe antenatal presentation with multisystem involvement to mild adulthood presentation limited to minor neurological involvement. Management ... Read more >>

J. Inherit. Metab. Dis. (Journal of inherited metabolic disease)
[2019, 42(1):5-28]

Cited: 1 time

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Measuring Rates of ATP Synthesis.

Matthew J Bird, Silvia Radenkovic, Pieter Vermeersch, David Cassiman,

Here, we offer you a high-throughput assay to measure the ATP synthesis capacity in cells or isolated mitochondria. More specifically, the assay is linked to the mitochondrial' electron transport chain components of your interest being either through complex I (with or without a linkage to pyruvate dehydrogenase activity), through complex ... Read more >>

Methods Mol. Biol. (Methods in molecular biology (Clifton, N.J.))
[2019, 1862:97-107]

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Inhibition of glutamine synthetase in monocytes from patients with acute-on-chronic liver failure resuscitates their antibacterial and inflammatory capacity.

Hannelie Korf, Johannie du Plessis, Jos van Pelt, Sofie De Groote, David Cassiman, Len Verbeke, Bart Ghesquière, Sarah-Maria Fendt, Matthew J Bird, Ali Talebi, Matthias Van Haele, Rita Feio-Azevedo, Lore Meelberghs, Tania Roskams, Rajeshwar P Mookerjee, Gautam Mehta, Rajiv Jalan, Thierry Gustot, Wim Laleman, Frederik Nevens, Schalk Willem van der Merwe,

OBJECTIVE:Acute-on-chronic liver failure (ACLF) is associated with dysfunctional circulating monocytes whereby patients become highly susceptible to bacterial infections. Here, we identify the pathways underlying monocyte dysfunction in ACLF and we investigate whether metabolic rewiring reinstates their phagocytic and inflammatory capacity. DESIGN:Following phenotypic characterisation, we performed RNA sequencing on CD14+CD16- monocytes ... Read more >>

Gut (Gut)
[2019, 68(10):1872-1883]

Cited: 2 times

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Hypophosphatasia in Adults: Clinical Spectrum and Its Association With Genetics and Metabolic Substrates.

Eveline Lefever, Peter Witters, Evelien Gielen, Annick Vanclooster, Wouter Meersseman, Eva Morava, David Cassiman, Michaël R Laurent,

BACKGROUND:Hypophosphatasia (HPP) is a rare metabolic bone disorder caused by mutations in the alkaline phosphatase (ALPL) gene, and characterized by low circulating alkaline phosphatase (ALP) levels and bone, muscle, dental and systemic manifestations. In this case series we investigate the clinical spectrum, genetic and biochemical profile of adult HPP patients ... Read more >>

J Clin Densitom (Journal of Clinical Densitometry)
[2018, :]

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Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?

Peter Witters, Tomas Honzik, Eric Bauchart, Ruqaiah Altassan, Tiffany Pascreau, Arnaud Bruneel, Sandrine Vuillaumier, Nathalie Seta, Delphine Borgel, Gert Matthijs, Jaak Jaeken, Wouter Meersseman, David Cassiman, Lonlay Pascale de, Eva Morava,

PURPOSE:PMM2-CDG is the most common congenital disorder of glycosylation (CDG), which presents with either a neurologic or multisystem phenotype. Little is known about the longitudinal evolution. METHODS:We performed data analysis on PMM2-CDG patients' clinical features according to the Nijmegen CDG severity score and laboratory data. Seventy-five patients (28 males) were ... Read more >>

Genet. Med. (Genetics in medicine : official journal of the American College of Medical Genetics)
[2019, 21(5):1181-1188]

Cited: 1 time

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Multiple Solid Organ Transplantation in Telomeropathy: Case Series and Literature Review.

Marnix Lebeer, Wim A Wuyts, David Cassiman, Wim Laleman, Frederik Nevens, Jacques Pirenne, Diethard Monbaliu, Tania Roskams, Eric K Verbeken, Arne P Neyrinck, Dirk E Van Raemdonck, Geert M Verleden, Robin Vos,

BACKGROUND:Solid organ transplantation is a valid treatment option for selected patients with organ failure due to an underlying telomeropathy; however, the feasibility of multiple-organ transplantation if several organs are compromised is unclear. METHODS:We describe 2 patients with telomeropathy due to heterozygous telomerase RNA component or telomerase reverse transcriptase mutation, who ... Read more >>

Transplantation (Transplantation)
[2018, 102(10):1747-1755]

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The SLC40A1 R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism.

Chandran Ka, Julie Guellec, Xavier Pepermans, Caroline Kannengiesser, Cécile Ged, Wim Wuyts, David Cassiman, Victor de Ledinghen, Bruno Varet, Caroline de Kerguenec, Claire Oudin, Isabelle Gourlaouen, Thibaud Lefebvre, Claude Férec, Isabelle Callebaut, Gérald Le Gac,

Hemochromatosis type 4 is one of the most common causes of primary iron overload, after HFE-related hemochromatosis. It is an autosomal dominant disorder, primarily due to missense mutations in SLC40A1 This gene encodes ferroportin 1 (FPN1), which is the sole iron export protein reported in mammals. Not all heterozygous missense ... Read more >>

Haematologica (Haematologica)
[2018, 103(11):1796-1805]

Cited: 1 time

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The ribosomal RPL10 R98S mutation drives IRES-dependent BCL-2 translation in T-ALL.

Kim R Kampen, Sergey O Sulima, Benno Verbelen, Tiziana Girardi, Stijn Vereecke, Gianmarco Rinaldi, Jelle Verbeeck, Joyce Op de Beeck, Anne Uyttebroeck, Jules P P Meijerink, Anthony V Moorman, Christine J Harrison, Pieter Spincemaille, Jan Cools, David Cassiman, Sarah-Maria Fendt, Pieter Vermeersch, Kim De Keersmaecker,

The R98S mutation in ribosomal protein L10 (RPL10 R98S) affects 8% of pediatric T-cell acute lymphoblastic leukemia (T-ALL) cases, and was previously described to impair cellular proliferation. The current study reveals that RPL10 R98S cells accumulate reactive oxygen species which promotes mitochondrial dysfunction and reduced ATP levels, causing the proliferation ... Read more >>

Leukemia (Leukemia)
[2019, 33(2):319-332]

Cited: 7 times

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Cobalamin C Deficiency Induces a Typical Histopathological Pattern of Renal Arteriolar and Glomerular Thrombotic Microangiopathy.

Mathilde Lemoine, Arnaud François, Steven Grangé, Marion Rabant, Valérie Châtelet, David Cassiman, Emilie Cornec-Le Gall, Damien Ambrosetti, Georges Deschênes, Jean-François Benoist, Dominique Guerrot,

Cobalamin C (cblC) deficiency is the most common inborn error of vitamin B12 metabolism. Renal failure attributed to thrombotic microangiopathy (TMA) has occasionally been described in the late-onset presentation of cblC deficiency, but kidney lesions associated with cblC deficiency remain poorly defined. This study aims to describe the characteristics of ... Read more >>

Kidney Int Rep (Kidney international reports)
[2018, 3(5):1153-1162]

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Long-term outcome of transjugular intrahepatic portosystemic shunt for portal hypertension in autosomal recessive polycystic kidney disease.

Sarah Verbeeck, Djalila Mekhali, David Cassiman, Geert Maleux, Peter Witters,

BACKGROUND:Autosomal recessive polycystic kidney disease (ARPKD) with congenital hepatic fibrosis (CHF) causes portal hypertension and its complications. A transjugular intrahepatic portosystemic shunt (TIPSS) could serve as a symptomatic treatment for portal hypertension-related symptoms in these children. AIMS:To study the effect of TIPSS on portal hypertension, liver and kidney function and ... Read more >>

Dig Liver Dis (Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver)
[2018, 50(7):707-712]

Cited: 2 times

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Liver transplantation for very severe hepatopulmonary syndrome due to vitamin A-induced chronic liver disease in a patient with Shwachman-Diamond syndrome.

Giorgia Bucciol, David Cassiman, Tania Roskams, Marleen Renard, Ilse Hoffman, Peter Witters, Rik Schrijvers, Heidi Schaballie, Barbara Bosch, Maria Caterina Putti, Olivier Gheysens, Noel Knops, Marc Gewillig, Djalila Mekahli, Jacques Pirenne, Isabelle Meyts,

Vitamin A intoxication is a rare cause of liver disease, but the risk increases in patients with underlying liver dysfunction. We present a patient with Shwachman-Diamond Syndrome who developed liver fibrosis, portal hypertension and very severe hepatopulmonary syndrome as a consequence of chronic vitamin A intoxication. She underwent successful liver ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2018, 13(1):69]

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Response by Kusters et al to Letter Regarding Article, "Effect of Rosuvastatin on Carotid Intima-Media Thickness in Children With Heterozygous Familial Hypercholesterolemia: The CHARON Study (Hypercholesterolemia in Children and Adolescents Taking Rosuvastatin Open Label)".

D Meeike Kusters, Marjet J A M Braamskamp, Gisle Langslet, Brian W McCrindle, David Cassiman, Gordon A Francis, Claude Gagne, Daniel Gaudet, Katherine M Morrison, Albert Wiegman, Traci Turner, Elinor Miller, Joel Raichlen, Paul D Martin, Evan A Stein, John J P Kastelein, Barbara A Hutten,

Circulation (Circulation)
[2018, 137(6):641-642]

Cited: 0 times

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