Results 61 to 70 of about 2,424 (142)

Lysosphingolipid Quantitation in Plasma and Dried‐Blood Spots Using Targeted High‐Resolution Mass Spectrometry

Journal of Clinical Laboratory Analysis, Volume 39, Issue 1, January 2025.
Sphingolipidoses is a group of rare inherited lysosomal diseases that require an early and accurate diagnosis for effective treatment and patient management. A high‐resolution mass spectrometry method coupled with liquid chromatography has beendeveloped to analyze lysosphingolipids in plasma and dried blood spots.
Franklin Ducatez, Wladimir Mauhin, Jules Ottaviani, Thomas Plichet, Carine Pilon, Olivier Lidove, Fréderic Barbey, Régine Perrichot, Sabrina Vergnaud, Marc G. Berger, Juliette Berger, Nadia Belmatoug, Yann Nadjar, Foudil Lamari, Esther Noel, Stéphane Marret, Soumeya Bekri, Abdellah Tebani   +17 more
wiley   +1 more source

Emerging Molecular‐Genetic Families in Dystonia: Endosome‐Autophagosome‐Lysosome and Integrated Stress Response Pathways

Movement Disorders, Volume 40, Issue 1, Page 7-21, January 2025.
Abstract Advances in genetic technologies and disease modeling have greatly accelerated the pace of introducing and validating molecular‐genetic contributors to disease. In dystonia, there is a growing convergence across multiple distinct forms of the disease onto core biological processes.
Nicole Calakos, Michael Zech
wiley   +1 more source

Deep brain stimulation for severe dystonia associated with Wilson disease: A prospective multicenter meta‐analysis of an N‐of‐1 trial

European Journal of Neurology, Volume 32, Issue 1, January 2025.
Abstract Background and purpose Disabling dystonia despite optimal medical treatment is common in Wilson disease (WD). No controlled study has evaluated the effect of deep brain stimulation (DBS) on dystonia related to WD. This study was undertaken to evaluate the efficacy of DBS on dystonia related to WD.
Chloé Laurencin, Aurelia Poujois, Maxime Bonjour, Caroline Demily, Hélène Klinger, Emmanuel Roze, Victoire Leclert, Teodor Danaila, Carole Langlois‐Jacques, Eduardo Couchonnal, France Woimant, Mickael Alexandre Obadia, Gwennaelle Perez, Michaela Pernon, Laurianne Blanchet, Emmanuel Broussolle, Marie Vidailhet, Behrouz Kassai, Elena Moro, Carine Karachi, Gustavo Polo, David Grabli, Aurélie Portefaix, Stéphane Thobois   +23 more
wiley   +1 more source

Magnetic resonance findings of the corpus callosum in canine and feline lysosomal storage diseases.

PLoS ONE, 2013
Several reports have described magnetic resonance (MR) findings in canine and feline lysosomal storage diseases such as gangliosidoses and neuronal ceroid lipofuscinosis.
Daisuke Hasegawa, Shinji Tamura, Yuya Nakamoto, Naoaki Matsuki, Kimimasa Takahashi, Michio Fujita, Kazuyuki Uchida, Osamu Yamato   +7 more
doaj   +1 more source

Patchy Dermal Melanocytosis: Differential Diagnosis and Management

Journal of Cosmetic Dermatology, Volume 24, Issue 1, January 2025.
ABSTRACT Background Nevus of Ito and Mongolian spots are distinct clinical presentations of patchy dermal melanocytosis, characterized by similar dermatological manifestations that can pose diagnostic difficulties for clinicians. Aim This review aims to consolidate current understanding and research advancements on these conditions to facilitate ...
Jiafang Zhu, Qingqing Cen, Rui Chang, Yue Han, Xiaoxi Lin   +4 more
wiley   +1 more source

Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients

Journal of Lipid Research, 2007
GM1-gangliosidosis and Morquio B disease are lysosomal storage disorders caused by β-galactosidase deficiency attributable to mutations in the GLB1 gene.
Raül Santamaria, Amparo Chabás, John W. Callahan, Daniel Grinberg, Lluïsa Vilageliu   +4 more
doaj   +1 more source

Sinbaglustat ameliorates disease pathology in a murine model of GM1 gangliosidosis without affecting CNS ganglioside levels

Neurobiology of Disease
Sinbaglustat is a brain-penetrating small molecule that inhibits the non-lysosomal glucocerebrosidase (GBA2) and, with lower potency, glucosylceramide synthase (GCS). Sinbaglustat has passed clinical phase I.
Rouven Wannemacher, Lorna Jubran-Rudolf, Isabel Zdora, Eva Leitzen, Karl Rohn, Virginie Sippel, Christoph Paschen, Peter Blattmann, Wolfgang Baumgärtner, Ingo Gerhauser, Michel Alexander Steiner   +10 more
doaj   +1 more source

Lysosomal Storage Disease

Journal of Nepal Medical Association, 2009
We report a case of lysosomal storage disease diagnosed by lysosomal enzyme assay in a two year old boy with a history of gradual onset of weakness of body, poor vision, fl accid neck and spasticity in all four limbs with hyper-refl exia.
Binod Khatiwada, A Pokharel
doaj   +1 more source

Population analysis of the GLB1 gene in South Brazil

Genetics and Molecular Biology, 2011
Infantile GM1 gangliosidosis is caused by the absence or reduction of lysosomal beta-galactosidase activity. Studies conducted in Brazil have indicated that it is one of the most frequent lysosomal storage disorders in the southern part of the country ...
Cléia Baiotto, Fernanda Sperb, Ursula Matte, Cláudia Dornelles da Silva, Renata Sano, Janice Carneiro Coelho, Roberto Giugliani   +6 more
doaj   +1 more source

Generation of an infantile GM1 gangliosidosis induced pluripotent stem cell line (CHOCi005-A) for disease modeling and therapeutic testing

Stem Cell Research
GM1 gangliosidosis (GM1) is a rare autosomal recessive neurogenerative lysosomal storage disease characterized by deficiency of beta-galactosidase (β-gal) and intralysosomal accumulation of GM1 ganglioside and other glycoconjugates.
Allisandra K. Rha, Chloe L. Christensen, Shih-Hsin Kan, Jerry F. Harb, Perla Andrade-Heckman, Raymond Y. Wang   +5 more
doaj   +1 more source