Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Orly Elpeleg"'
Autor:
Hagit Daum, Tamar Harel, Talya Millo, Avital Eilat, Duha Fahham, Shiri Gershon-Naamat, Adily Basal, Chaggai Rosenbluh, Nili Yanai, Shay Porat, Doron Kabiri, Simcha Yagel, Dan V. Valsky, Orly Elpeleg, Vardiella Meiner, Hagar Mor-Shaked
Publikováno v:
European Journal of Human Genetics. 31:164-168
Autor:
Orly Elpeleg, Shimon Edvardson, Ivano Di Meo, Ann Saada, Yakov Fellig, Daniele Ghezzi, Alessia Nasca
Publikováno v:
Journal of Human Genetics. 66:835-840
MSTO1 is a cytoplasmic protein that modulates mitochondrial dynamics by promoting mitochondrial fusion. Mutations in the MSTO1 gene are responsible for an extremely rare condition characterized by early-onset myopathy and cerebellar ataxia. We report
Autor:
Orly Elpeleg, Moshe Dessau, Avraham Shaag, Ronen Spiegel, Yoav Zehavi, Haneen Jabaly-Habib, Ann Saada
Publikováno v:
Metabolic Brain Disease. 36:581-588
Isolated defects in the mitochondrial respiratory chain complex II (CII; succinate-ubiquinone oxidoreductase) are extremely rare and mainly result from bi-allelic mutations in one of the nuclear encoded subunits: SDHA, SDHB and SDHD, which comprise C
Autor:
Adeeb NaserEddin, Nathalie Asherie, Hagar Mor-Shaked, Polina Stepensky, Bella Shadur, Orly Elpeleg, Shlomit Kfir-Erenfeld, Yael Dinur Schejter, Taly Dubnikov
Publikováno v:
European Journal of Human Genetics
The GTPase of immunity-associated proteins (GIMAPs) are a family of genes believed to contribute to lymphocyte development, signaling, and apoptosis, thus playing an important role in immune system homeostasis. While models of gene derangement have b
Autor:
Bassam Abu-Libdeh, Simon Edvardson, Tamar Harel, Orly Elpeleg, Muhannad Daana, Anwar Dudin, Maher Shahrour, Motee Ashhab
Publikováno v:
neurogenetics. 20:209-213
Regulation of neuronal connectivity and synaptic communication are key to proper functioning of the brain. The Netrin-G subfamily and their cognate receptors are vertebrate-specific synaptic cell adhesion molecules with a role in synapse establishmen
Autor:
Orly Elpeleg, Ruth Sheffer, Eli M. Eisenstein, Malcolm Rabie, Shimon Edvardson, Chaim Jalas, Nitay D Fraenkel, Rebecca Brooks, Muhannad Daana, Tamar Harel, Michal Gur, Yoram Nevo, Somaya Salah
Publikováno v:
Eur J Hum Genet
The ATP/GTP-Binding Protein 1 (AGTPBP1) gene (OMIM *606830) catalyzes deglutamylation of polyglutamylated proteins, and its deficiency manifests by cerebellar ataxia and peripheral neuropathy in mice and lower motor neuron-like disease in sheep. In t
Autor:
Sebastian Fuchs, Oded Shamriz, Bella Shadur, Polina Stepensky, Orly Elpeleg, Raz Somech, Klaus Warnatz, Caroline von Spee-Mayer, Vered Molho Pessach, Adeeb NaserEddin, Sara Amro, Nisreen Rumman, Baerbel Keller, Omar Abuzaitoun, David Friedmann, Stephan Ehl, Susanne Unger
Publikováno v:
Journal of Clinical Immunology. 38:527-536
All reported patients with hypomorphic X-linked severe combined immunodeficiency (X-SCID) due to c.664C>T (p.R222C) mutations in the gene (IL2RG) encoding the common γ chain (γc) have presented with opportunistic infections within the first year of
Autor:
Ann Saada, Sarah Amro, Liza Douiev, Chaya Miller, Asaf Ta-Shma, Maher Shahrour, Orly Elpeleg, Bassam Abu-Libdeh
Publikováno v:
European Journal of Human Genetics. 25:1142-1146
We describe a novel autosomal recessive form of mitochondrial disease in a child with short stature, poor weight gain, and mild dysmorphic features with highly suspected Fanconi anemia due to a mutation in COX4I1 gene. Whole Exome Sequencing was perf
Publikováno v:
neurogenetics. 18:135-139
Hypomyelinating leukodystrophies are a group of neurodevelopmental disorders that affect proper formation of the myelin sheath in the central nervous system. They are characterized by developmental delay, hypotonia, spasticity, and variable intellect
Autor:
Drago Haas, Orly Elpeleg, Laurence Prunetti, Valérie de Crécy-Lagard, Asas Ta-Shma, Simon Edvardson, Jo Marie Bacusmo, Peter C. Dedon, Aiman Arraf, Jennifer Hu
Publikováno v:
European Journal of Human Genetics. 25:545-551
Post-transcriptional tRNA modifications are numerous and require a large set of highly conserved enzymes in humans and other organisms. In yeast, the loss of many modifications is tolerated under unstressed conditions; one exception is the N6-threony