Results 61 to 70 of about 132,494 (221)

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

Hereditary spastic paraplegia type 35 caused by a novel FA2H mutation

The Turkish Journal of Pediatrics, 2017
Hereditary spastic paraplegia type 35 (SPG35) is a rare disorder characterized by progressive spasticity. Mutations in the fatty acid 2-hydroxylase (FA2H) gene in different loci are responsible for phenotypic variability.
Gonca Bektaş, Gözde Yeşil, Edibe Pembegül Yıldız, Nur Aydınlı, Mine Çalışkan, Meral Özmen   +5 more
doaj   +1 more source

Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous Y275X mutation in CYP7B1 (SPG5)

Stem Cell Research, 2016
Skin fibroblasts were obtained from a 47-year-old hereditary spastic paraplegia patient carrying a homozygous mutation Y275X in CYP7B1 (Cytochrome P450, Family 7, Subfamily B, Polypeptide 1), responsible for causing hereditary spastic paraplegia type 5 ...
Stefan Hauser, Philip Höflinger, Yvonne Theurer, Tim W Rattay, Ludger Schöls   +4 more
doaj   +1 more source

Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa, Leandro Rodrigo Ribeiro, Jéssica Lorena Bariviera, Mauro Schneider Oliveira   +3 more
wiley   +1 more source

Hereditary spastic paraplegia 3A associated with axonal neuropathy

, 2007
OBJECTIVE: To study the frequency and distribution of mutations in SPG3A in a large cohort of patients with hereditary spastic paraplegia. DESIGN: We screened a large cohort of 182 families and isolated cases with pure or complex hereditary spastic ...
Zamecnik, J., Ceulemans, Berten, Löfgren, A., Mitev, Vanio, Sereda, Michael W., Priller, Josef, Smeyers, G., Ivanova, Neviana, Deconinck, T., Deconinck, Tine, Auer-Grumbach, Michaela, Litvinenko, I., Björck, E., Haberlova, J., L\uf6fgren, Ann, Nicholson, Garth, Kremensky, Ivo, Jordanova, Albena, Sereda, M., Erichsen, Anne Kjersti, Auer-Grumbach, M., Erichsen, A., Smeyers, Gis\ue8le, Ivanova, N., Jordanova, A., Smeyers, Gisele, Mercelis, Rudy, Nelis, Eva, Nelis, E., Bj\uf6rck, Erik, Mercelis, Rudolf, Kremensky, I., Mitev, V., Plecko, B., Seeman, P., Seeman, Pavel, Z\ue1me\u10dn\uedk, Josef, De Jonghe, Peter, Claeys, K., Priller, J., Litvinenko, Ivan, Zamecnik, Josef, Nicholson, G., Löfgren, Ann, Mercelis, R., De Jonghe, P., Claeys, Kristl G., Ceulemans, B., Plecko, Barbara, Björck, Erik, Haberlova, Jana   +50 more
core   +1 more source

Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous R486C mutation in CYP7B1 (SPG5)

Stem Cell Research, 2016
Skin fibroblasts were obtained from a 47-year-old hereditary spastic paraplegia patient carrying a homozygous mutation R486C in CYP7B1 (Cytochrome P450, Family 7, Subfamily B, Polypeptide 1), responsible for causing hereditary spastic paraplegia type 5 ...
Philip Höflinger, Yvonne Theurer, Rebecca Schüle, Ludger Schöls, Stefan Hauser   +4 more
doaj   +1 more source

Protocol for Reconstituting Adaptor‐Mediated Activation of Full‐Length Kinesin‐1

Cytoskeleton, EarlyView.
ABSTRACT Kinesin‐1 is a member of the kinesin superfamily that plays an essential role in intracellular cargo transport. In the absence of cargo, Kinesin‐1 exhibits low motor activity due to autoinhibition. Multiple studies have demonstrated that adaptor proteins, which link cargos to Kinesin‐1, can activate Kinesin‐1 by releasing the autoinhibition ...
Haruka Masumoto, Kyoko Chiba
wiley   +1 more source

Hereditary spastic paraplegia with hypoplastic corpus callosum in a Turkish family

, 2007
Hereditary spastic paraplegia is composed of a heterogeneous group of neurodegenerative disorders and is classified as pure or complicated due to its clinical variability. Autosomal recessive hereditary spastic paraplegia with hypoplastic corpus callosum
Serdaroglu, Ayse, Hirfanoglu, Tuğba, Ok, Ikbal, Gucuyener, Kivilcim, Cansu, Ali   +4 more
core   +1 more source

Hyperactive KIF5A in Neurodegeneration

Cytoskeleton, EarlyView.
ABSTRACT The highly polarised morphology of neurons and the sheer length of their axons make transport of cargoes throughout the cell a formidable task. Decades of evidence obtained from genetic studies on patients and animal models highlight deficits in axonal transport as a recurrent cause, or early contributing factor, in a plethora of ...
David Villarroel‐Campos, James N. Sleigh   +1 more
wiley   +1 more source

A pseudo‐homozygous missense variant and Alu‐mediated exon 5 deletion in FARS2 causing spastic paraplegia 77

Annals of Clinical and Translational Neurology
FARS2‐associated hereditary spastic paraplegia, later onset spastic paraplegia type 77, is a rarely neurodegenerative disease. Here, we reported two affected siblings in an autosomal recessive spastic paraplegia family with a pseudo‐homozygous missense ...
Shu‐Huai Lin, Jun‐Hao Xie, Jun‐Yi Jiang, Xin‐Yu Yan, Chao‐Yin Hong, Wan‐Jin Chen, Ning Wang, Xiang Lin   +7 more
doaj   +1 more source