Jiang, Zhirui Johnson, Casey P Nykänen, Olli Nissi, Mikko Lau, Yian Khai Wu, Meilun Casal, Margret L Smith, Lachlan J
Published in
Connective tissue research
Purpose: Mucopolysaccharidosis (MPS) VII is a genetic, lysosomal storage disease characterized by abnormal accumulation of glycosaminoglycans in cells and tissues. MPS VII patients exhibit multiple failures of endochondral ossification during postnatal growth, including markedly delayed cartilage-to-bone conversion in the vertebrae and long bones. ...
Schlotawa, Lars Preiskorn, Joana Ahrens-Nicklas, Rebecca Schiller, Stina Adang, Laura A Gärtner, Jutta Friede, Tim
Published in
Journal of inherited metabolic disease
Multiple Sulfatase Deficiency (MSD, MIM#272200) is an ultra-rare lysosomal storage disorder arising from mutations in the SUMF1 gene, which encodes the formylglycine-generating enzyme (FGE). FGE is necessary for the activation of sulfatases, a family of enzymes that are involved in the degradation of sulfated substrates such as glycosaminoglycans a...
Revel-Vilk, Shoshana Fuller, Maria Zimran, Ari
Published in
International Journal of Molecular Sciences
The challenges in the diagnosis, prognosis, and monitoring of Gaucher disease (GD), an autosomal recessive inborn error of glycosphingolipid metabolism, can negatively impact clinical outcomes. This systematic literature review evaluated the value of glucosylsphingosine (lyso-Gb1), as the most reliable biomarker currently available for the diagnosi...
Soliani, Luca Salerno, Grazia Gabriella Pisani, Francesco Barigazzi, Ilaria Rizzi, Susanna Spagnoli, Carlotta Frattini, Daniele Zangrandi, Andrea Fusco, Carlo
Published in
Acta Bio Medica : Atenei Parmensis
Background: Niemann-Pick disease type C (NPC) is a lysosomal storage disease caused by mutations in NPC1 or NPC2 genes. Case presentation: We present two brothers with the same compound heterozygous variants in exon 13 of the NPC1 gene (18q11.2), the first one (c.1955C> G, p. Ser652Trp), inherited from the mother, the second (c.2107T>A p.Phe703Ile)...
Nestele, Jeremy van den Hoven, Carst Van Craenenbroeck, Emeline M Eyskens, Francois Paelinck, Bernard P Dendooven, Amélie Haine, Steven E
Published in
Acta cardiologica
Taverna, Simona Cammarata, Giuseppe Colomba, Paolo Sciarrino, Serafina Zizzo, Carmela Francofonte, Daniele Zora, Marco Scalia, Simone Brando, Chiara Curto, Alessia Lo
...
Published in
Aging
Pompe disease (PD) is a rare autosomal recessive disorder caused by mutations in the GAA gene, localized on chromosome 17 and encoding for acid alpha-1,4-glucosidase (GAA). Currently, more than 560 mutations spread throughout GAA gene have been reported. GAA catalyzes the hydrolysis of α-1,4 and α-1,6-glucosidic bonds of glycogen and its deficiency...
Serratrice, Christine Stirnemann, Jérôme Berrahal, Amina Belmatoug, Nadia Camou, Fabrice Caillaud, Catherine Billette de Villemeur, Thierry Dalbies, Florence Cador, Bérengère Froissart, Roseline
...
Published in
Journal of Clinical Medicine
Patients with type 1 Gaucher disease (GD1) present thrombocytopenia, anemia, organomegaly, and bone complications. Most experts consider that the less aggressive forms do not require specific treatment. However, little is known about the disease course of these forms. The objective of this cross-sectional retrospective study was to compare the clin...
Weinstock, Nadav I Shin, Daesung Dhimal, Narayan Hong, Xinying Irons, Eric E Silvestri, Nicholas J Reed, Chelsey B Nguyen, Duc Sampson, Oliver Cheng, Yung-Chih
...
Published in
Neuron
Many therapies for lysosomal storage disorders rely on cross-correction of lysosomal enzymes. In globoid cell leukodystrophy (GLD), mutations in GALC cause psychosine accumulation, inducing demyelination, a neuroinflammatory "globoid" reaction and neurodegeneration. The efficiency of GALC cross-correction in vivo, the role of the GALC substrate gal...
Hamilton, Noémie Rutherford, Holly A Petts, Jessica J Isles, Hannah M Weber, Thomas Henneke, Marco Gärtner, Jutta Dunning, Mark J Renshaw, Stephen A
Published in
Glia
The contribution of microglia in neurological disorders is emerging as a leading disease driver rather than a consequence of pathology. RNAseT2-deficient leukoencephalopathy is a severe childhood white matter disorder affecting patients in their first year of life and mimicking a cytomegalovirus brain infection. The early onset and resemblance of t...
Rivero-Ríos, Pilar Romo-Lozano, María Fasiczka, Rachel Naaldijk, Yahaira Hilfiker, Sabine
Published in
Frontiers in Neuroscience
Mutations in the gene encoding for leucine-rich repeat kinase 2 (LRRK2) are associated with both familial and sporadic Parkinson’s disease (PD). LRRK2 encodes a large protein comprised of a GTPase and a kinase domain. All pathogenic variants converge on enhancing LRRK2 kinase substrate phosphorylation, and distinct LRRK2 kinase inhibitors are curre...
