Results 71 to 80 of about 31,520 (324)

Generation of an induced pluripotent stem cell line from a 3-month-old nemaline myopathy patient with a heterozygous dominant c.515C > A (p.Ala172Glu) variant in the ACTA1 gene

Stem Cell Research, 2022
Variants in the ACTA1 gene are a common cause of nemaline myopathy (NM); a muscle disease that typically presents at birth or early childhood with hypotonia and muscle weakness.
Joshua S. Clayton, Isabella Suleski, Christina Vo, Robert Smith, Carolin K. Scriba, Safaa Saker, Thierry Larmonier, Edoardo Malfatti, Norma B. Romero, Peter J. Houweling, Kristen J. Nowak, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor   +13 more
doaj   +1 more source

Human CNTNAP1 Variants Associated With Severe Neurological Deficits: Additional Cases and Literature Review. [PDF]

Muscle Nerve
ABSTRACT CNTNAP1 encodes the Contactin‐Associated Protein 1 (CNTNAP1), also known as Caspr1, which is a transmembrane protein critical for nervous system function. CNTNAP1 is localized to the paranodal regions of all myelinated axons, flanking either side of the node of Ranvier.
Sell LB, Garcia D, Hollá A, Chilton I, DeVries S, Gómez-Moreno AM, Lubián-Gutiérrez M, Shi Q, Bhat MA.   +8 more
europepmc   +2 more sources

Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease [PDF]

, 2018
In recent years, an increasing number of mitochondrial disorders have been associated with mutations in mitochondrial aminoacyl-tRNA synthetases (mt-aaRSs), which are key enzymes of mitochondrial protein synthesis. Bi-allelic functional variants in VARS2,
Ardissone, Anna, Bellacchio, Emanuele, Bonnen, Penelope E., Bruni, Francesco, Chrzanowska-Lightowlers, Zofia M. A., Di Meo, Ivano, Diodato, Daria, Enrico, Bertini, Ghezzi, Daniele, Haack, Tobias, He, Langping, Isohanni, Pirjo, Mandel, Hanna, McFarland, Robert, Moroni, Isabella, Prokisch, Holger, Pronicka, Ewa, Skorupa, Ewa, Taylor, Robert W., Tyynismaa, Henna, Walczak, Anna, Webb, Bryn D.   +21 more
core   +2 more sources

Temporal and Cell‐Specific Regulation of Synaptic Homeostasis by the Chromatin Remodeler Chd1

Advanced Science, EarlyView.
Chd1, the Drosophila homologue of mammalian CHD2 ‐ a gene linked to autism, epilepsy, and intellectual disability, is required for synaptic homeostatic plasticity. Chd1 in glia is necessary for the rapid induction of synaptic homeostasis, whereas Chd1 in motoneurons, muscle, and glia is critical for long‐term maintenance.
Danielle T. Morency, Tao Cui, Yimei Cai, Chloe Lok, Rachel E. Nokku, Ruoxian Huang, Grace L. Chu, Yumeng Xie, Saleem W. Abu‐Tayeh, Kaikai He, Chengjie Qiu, Junyi Wang, Paxton M. Paganelli, Ting Wang, Gabrielle Williams, Sreejith Nair, Huadong Pei, Dion K. Dickman, Stefano Vicini, Tingting Wang   +19 more
wiley   +1 more source

Liver transplantation for type IV glycogen storage disease [PDF]

, 1991
TYPE IV glycogen storage disease is a rare autosomal recessive disorder (also called Andersen's disease1 or amylopectinosis) in which the activity of branching enzyme alpha-1, 4-glucan: alpha-1, 4-glucan 6-glucosyltransferase is deficient in the liver as
Andreas Tzakis, Bannayan, Barbara I. Brown, Brown, Eduardo Yunis, Greene, Illingworth, Ishihara, Ishihara, Mazzaferro, McMaster, Reed, Rick Selby, Ross S. Kendall, Schochet, Stand, Starzl, Thomas E. Starzl   +17 more
core   +1 more source

Pathogenic Role of FGFR3 Autoantibodies in Small Fiber Neuropathy

Advanced Science, EarlyView.
Autoantibodies against fibroblast growth factor receptor 3 (FGFR3) are identified as pathogenic drivers of pain in small fiber neuropathy. By binding to sensory neurons in dorsal root ganglia, FGFR3 autoantibodies activate MAPK signaling and induce hyperexcitability and mechanical hypersensitivity, establishing FGFR3 autoantibodies as a therapeutic ...
Lyuba Y. Salih, Nicolas L.A. Dumaire, Clémence Gieré, Erin Vest, Haya Alkhateeb, Christian P. Moritz, Yannick Tholance, Jean‐Philippe Camdessanché, Jean‐Christophe Antoine, Jérôme Honnorat, Jafar Kafaie, Liberty François‐Moutal, Aubin Moutal   +12 more
wiley   +1 more source

Anesthetic management of a child with phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG)

JA Clinical Reports, 2017
Background Glycosylation is one of the major posttranslational modifications of proteins and it is essential for proteins to obtain normal biological functions.
Wataru Sakai, Yusuke Yoshikawa, Yasuyuki Tokinaga, Michiaki Yamakage   +3 more
doaj   +1 more source

A Possible Case of Centronuclear Myopathy: A Case Report

Medicina, 2023
Congenital myopathies (CMs) are a group of diseases that primarily affect the muscle fiber, especially the contractile apparatus and the different components that condition its normal functioning. They present as muscle weakness and hypotonia at birth or
Narjara Castillo-Ferrán, Juan Mario Junco-Rodriguez, Zurina Lestayo-O’Farrill, María de los Angeles Robinson-Agramonte, Zoilo Camejo-León, Héctor Jesús Gómez-Suárez, Mercedes Salinas-Olivares, Evelyn Antiguas-Valdez, Elizabeth Falcón-Lamazares, Dario Siniscalco   +9 more
doaj   +1 more source

Syndromes associated with mitochondrial DNA depletion [PDF]

, 2014
This is an Open Access article distributed under the terms of the Creative Commons Attribution License.Mitochondrial dysfunction accounts for a large group of inherited metabolic disorders most of which are due to a dysfunctional mitochondrial ...
Almeida, Ligia S., Nesti, C., Nogueira, Célia, Pezzini, I., Santorelli, F.M., Videira, A., Vilarinh, Laura   +6 more
core   +1 more source

KDM4A Erases the H3R17me2a Mark, Facilitating Chromosome Condensation

Advanced Science, EarlyView.
This study reveals a reversible histone modification switch governing chromosome condensation during mitosis. PKCα‐activated KDM4A removes H3R17me2a, permitting Suv39h1‐driven H3K9me3 deposition. This epigenetic transition recruits the chromosomal passenger complex and triggers Aurora B‐dependent H3S10 phosphorylation, coordinating chromatin remodeling
Yena Cho, Jee Won Hwang, Gyu Hwan Hyun, Sangkyu Lee, Dae‐Geun Song, Su‐Nam Kim, Yong Kee Kim   +6 more
wiley   +1 more source