Results 61 to 70 of about 2,165 (162)

Advances and Pitfalls of Cell Therapy in Metabolic Leukodystrophies

Cell Transplantation, 2013
Leukodystrophies are a group of disorders characterized by myelin dysfunction, either at the level of myelin formation or maintenance, that affect the central nervous system (CNS) and also in some cases, to a lesser extent, the peripheral nervous system (
Catarina Oliveira Miranda, Pedro Brites, Mónica Mendes Sousa, Carla Andreia Teixeira   +3 more
doaj   +1 more source

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.

PLoS Genetics, 2018
As part of a broader collaborative network of exome sequencing studies, we developed a jointly called data set of 5,685 Ashkenazi Jewish exomes. We make publicly available a resource of site and allele frequencies, which should serve as a reference for ...
Manuel A Rivas, Brandon E Avila, Jukka Koskela, Hailiang Huang, Christine Stevens, Matti Pirinen, Talin Haritunians, Benjamin M Neale, Mitja Kurki, Andrea Ganna, Daniel Graham, Benjamin Glaser, Inga Peter, Gil Atzmon, Nir Barzilai, Adam P Levine, Elena Schiff, Nikolas Pontikos, Ben Weisburd, Monkol Lek, Konrad J Karczewski, Jonathan Bloom, Eric V Minikel, Britt-Sabina Petersen, Laurent Beaugerie, Philippe Seksik, Jacques Cosnes, Stefan Schreiber, Bernd Bokemeyer, Johannes Bethge, International IBD Genetics Consortium, NIDDK IBD Genetics Consortium, T2D-GENES Consortium, Graham Heap, Tariq Ahmad, Vincent Plagnol, Anthony W Segal, Stephan Targan, Dan Turner, Paivi Saavalainen, Martti Farkkila, Kimmo Kontula, Aarno Palotie, Steven R Brant, Richard H Duerr, Mark S Silverberg, John D Rioux, Rinse K Weersma, Andre Franke, Luke Jostins, Carl A Anderson, Jeffrey C Barrett, Daniel G MacArthur, Chaim Jalas, Harry Sokol, Ramnik J Xavier, Ann Pulver, Judy H Cho, Dermot P B McGovern, Mark J Daly   +59 more
doaj   +1 more source

Acetate supplementation induces growth arrest of NG2/PDGFRα-positive oligodendroglioma-derived tumor-initiating cells.

PLoS ONE, 2013
Cancer is associated with globally hypoacetylated chromatin and considerable attention has recently been focused on epigenetic therapies. N-acetyl-L-aspartate (NAA), the primary storage form of acetate in the brain, and aspartoacylase (ASPA), the enzyme ...
Patrick M Long, Scott W Tighe, Heather E Driscoll, John R Moffett, Aryan M A Namboodiri, Mariano S Viapiano, Sean E Lawler, Diane M Jaworski   +7 more
doaj   +1 more source

Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: Efficient identification of known microduplications and identification of a novel microduplication in ASMT

BMC Medical Genomics, 2008
Background It has previously been shown that specific microdeletions and microduplications, many of which also associated with cognitive impairment (CI), can present with autism spectrum disorders (ASDs). Multiplex ligation-dependent probe amplification (
Reichert Jennifer G, Nakamine Alisa, Cohen Ninette, Goldsmith Juliet E, Edelmann Lisa, Cai Guiqing, Hoffman Ellen J, Zurawiecki Danielle M, Silverman Jeremy M, Hollander Eric, Soorya Latha, Anagnostou Evdokia, Betancur Catalina, Buxbaum Joseph D   +13 more
doaj   +1 more source

Canavan disease: An Arab scenario

Gene, 2015
The autosomal recessive Canavan disease (CD) is a neurological disorder that begins in infancy. CD is caused by mutations in the gene encoding the ASPA enzyme. It has been reported with high frequency in patients with Jewish ancestry, and with low frequency in non-Jewish patients.
openaire   +4 more sources

Neurosurgical gene therapy for central nervous system diseases

Neurotherapeutics
Viral vector mediated gene therapies for neurodegenerative and neurodevelopmental conditions that require neurosurgical administration continue to expand.
Ruchit V. Patel, Pranav Nanda, R. Mark Richardson   +2 more
doaj   +1 more source

Gene therapy for the leukodystrophies: From preclinical animal studies to clinical trials

Neurotherapeutics
Leukodystrophies are progressive single gene disorders affecting the white matter of the brain. Several gene therapy trials are in progress to address the urgent unmet need for this patient population.
Jasna Metovic, Yedda Li, Yi Gong, Florian Eichler   +3 more
doaj   +1 more source

Pathological Bergmann glia alterations and disrupted calcium dynamics in ataxic Canavan disease mice. [PDF]

Glia, 2023
Hull VL, Wang Y, Wang Y, Burns T, Sternbach S, Gong S, McDonough J, Guo F, Borodinsky LN, Pleasure D.   +9 more
europepmc   +1 more source

Effect of topiramate on enlargement of head in Canavan disease: a new option for treatment of megalencephaly

The Turkish Journal of Pediatrics, 2004
Canavan disease (CD) is a rare autosomal recessive genetic disorder characterized by early onset progressive spongy degeneration of the brain involving the axon's myelin sheath.
Meral Topçu, Dilek Yalnizoğlu, Işil Saatçi, Göknur Haliloğlu, Haluk Topaloğlu, Nesrin Senbil, Saniye Onol, Turgay Coşkun   +7 more
doaj  

On Clustering of Juvenile Canavan disease in an Indian community due to population bottleneck and isolation: Genomic signatures of a founder event. [PDF]

Eur J Hum Genet, 2023
Das R.
europepmc   +1 more source