Results 81 to 90 of about 21,283 (267)

Severe congenital microcephaly with AP4M1 mutation, a case report [PDF]

, 2017
Background: Autosomal recessive defects of either the B1, E1, M1 or S1 subunit of the Adaptor Protein complex-4 (AP4) are characterized by developmental delay, severe intellectual disability, spasticity, and occasionally mild to moderate microcephaly of ...
Abramowicz, Marc, David, Philippe, Desmyter, Laurence, Duerinckx, Sarah, Perazzolo, Camille, Pirson, Isabelle, Verhelst, Helene   +6 more
core   +2 more sources

CypD Dependent mPTP Opening Is Crucial for Oxidized Mitochondrial DNA Release in Ferroptosis

Advanced Science, EarlyView.
Ferroptosis is driven by mitochondrial permeability transition pore (mPTP) opening, which induces mitochondrial swelling and releases oxidized mitochondrial DNA. The released mtDNA activates cGAS–STING signaling, promotes ferritinophagy, and amplifies ferroptotic cell death. Disruption of mtDNA repair sensitizes tumors to ferroptosis in vivo, revealing
Hong Zhou, Wan Fu, Shizuo Liu, Zili Zhang, Hanyan Luo, Qing Zhong   +5 more
wiley   +1 more source

Retinal nerve fibre layer loss in hereditary spastic paraplegias is restricted to complex phenotypes [PDF]

, 2012
Background Reduction of retinal nerve fibre layer (RNFL) thickness was shown as part of the neurodegenerative process in a range of different neurodegenerative pathologies including Alzheimer′s disease (AD), idiopathic Parkinson’s disease (PD ...
Ahmad Zhour, Ludger Schöls, Manuel Dominik Fischer, Sarah Wiethoff   +3 more
core   +3 more sources

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio   +15 more
wiley   +1 more source

Case report on novel mutation in SPAST gene in Polish family with spastic paraplegia

BMC Neurology, 2019
Background Hereditary spastic paraplegia is a large group of degenerative, neurological disorders characterized by progressive lower limb spasticity and weakness.
Aleksandra Klimkowicz-Mrowiec, Anna Dziubek, Malgorzata Sado, Marek Karpiński, Agnieszka Gorzkowska   +4 more
doaj   +1 more source

Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4B1-associated hereditary spastic paraplegia (SPG47)

Stem Cell Research, 2019
Bi-allelic variants in the subunits of the adaptor protein complex 4 lead to childhood-onset, complex hereditary spastic paraplegia (AP-4-HSP): SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E1), and SPG52 (AP4S1).
Julian Teinert, Robert Behne, Angelica D'Amore, Miriam Wimmer, Sean Dwyer, Teresa Chen, Elizabeth D. Buttermore, Ivy Pin-Fang Chen, Mustafa Sahin, Darius Ebrahimi-Fakhari   +9 more
doaj   +1 more source

Drosophila Spastin Regulates Synaptic Microtubule Networks and Is Required for Normal Motor Function [PDF]

, 2004
Nina Tang Sherwood is with California Institute of Technology, Qi Sun is with California Institute of Technology, Mingshan Xue is with UT Austin, Bing Zhang is with UT Austin, Kai Zinn is with California Institute of Technology.The most common form of ...
Sherwood, Nina Tang, Sun, Qi, Xue, Mingshan, Zhang, Bing, Zinn, Kai   +4 more
core   +6 more sources

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

Annals of Neurology, EarlyView.
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov, Ivana Dzinovic, Theresa Brunet, Vicente A. Yépez, Florian Hölzlwimmer, Elisabetta Indelicato, Birgit Assmann, Susann Badmann, Diana Ballhausen, Steffen Berweck, Felix Brechtmann, Melanie Brugger, Kevork Derderian, Felix Distelmaier, Philip Harrer, Denisa Harvanova, Petra Havrankova, Ann‐Kathrin Jaroszynski, Miriam Kolnikova, Robert Kopajtich, Anne Koy, Magdalena Krygier, Lukas Kunc, Katarina Kusikova, Oliver Maier, Maria Mazurkiewicz‐Bełdzińska, Christian Mertes, Ava Oberlack, Timo Roser, Alexandra Sitzberger, Ugo Sorrentino, Antonia M. Stehr, Katharina Vill, Matias Wagner, Holger Prokisch, Sylvia Boesch, Jan Necpal, Robert Jech, Juliane Winkelmann, Elisabeth Graf, Julien Gagneur, Matej Skorvanek, Michael Zech   +42 more
wiley   +1 more source

Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!

Annals of Clinical and Translational Neurology, 2019
Homozygous mutations in MAG, encoding the myelin‐associated glycoprotein, a transmembrane component of the myelin sheath, have been associated with SPG 75 recessive spastic paraplegia.
Agathe Roubertie, Majida Charif, Pierre Meyer, Gael Manes, Isabelle Meunier, Guillaume Taieb, Raul Junta Morales, Agnès Guichet, Cecile Delettre, Emmanuelle Sarzi, Nicolas Leboucq, François Rivier, Guy Lenaers   +12 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