Results 41 to 50 of about 2,322 (154)

Cardiac magnetic resonance findings in neuronal ceroid lipofuscinosis: A case report

Frontiers in Neurology, 2022
Cardiac magnetic resonance imaging (MRI) is an essential tool for the study of hypertrophic cardiomyopathies (HCM) and for differentiating HCM from conditions with increased ventricular wall thickness, such as cardiac storage diseases.
Giancarlo Todiere, Stefania Della Vecchia, Maria Aurora Morales, Andrea Barison, Ivana Ricca, Alessandra Tessa, Elisa Colombi, Filippo Maria Santorelli   +7 more
doaj   +1 more source

Association between CLN3 (Neuronal Ceroid Lipofuscinosis, CLN3 type) gene expression and clinical characteristics of breast cancer patients

Frontiers in Oncology, 2015
Breast cancer is the most common cancer in women worldwide. Elucidation of underlying biology and molecular pathways is necessary for improving therapeutic options and clinical outcomes.
Rose-Mary eBoustany, Joelle eMakoukji, Mohamad eRaad, Katia eGenadry, Sally eEl-Sitt, Nadine J. Makhoul, Ehab eSaad Aldin, Eden eNohra, Mark eJabbour, Ajanthah eSangaralingam, Claude eChelala, Robert H. Habib, Fouad eBoulos, Arafat eTfayli   +13 more
doaj   +1 more source

Motor function impairment is an early sign of CLN3 disease

Neurology, 2019
To delineate timing of motor decline in CLN3 disease.Motor function, assessed by the 6-Minute Walk Test (6MWT), was evaluated repeatedly in 15 patients with CLN3 disease, resulting in 65 test results and during one occasion in 2 control cohorts. One control cohort (n = 14) had isolated visual impairment; a second cohort (n = 12) exhibited visual ...
Kuper, Willemijn F. E., van Alfen, Claudia, van Eck, Linda, Huijgen, Barbara C. H., Nieuwenhuis, Edward E. S., van Brussel, Marco, van Hasselt, Peter M.   +6 more
openaire   +3 more sources

The Effect of CLN3 Disease on Organellar Characteristics

, 2021
CLN3 disease, or juvenile dementia, is a lysosomal storage disorder with largely neurological symptoms. Towards the end of their lives, individuals with CLN3 disease develop a cardiac phenotype, which has not yet been systematically studied. On a cellular level, mutations in CLN3 have been shown to disrupt the endo-lysosomal system.
openaire   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

CLN3 transcript complexity revealed by long-read RNA sequencing analysis

BMC Medical Genomics
Background Batten disease is a group of rare inherited neurodegenerative diseases. Juvenile CLN3 disease is the most prevalent type, and the most common pathogenic variant shared by most patients is the “1-kb” deletion which removes two internal coding ...
Hao-Yu Zhang, Christopher Minnis, Emil Gustavsson, Mina Ryten, Sara E. Mole   +4 more
doaj   +1 more source

Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system. [PDF]

PLoS ONE, 2012
Cln3(Δex7/8) mice harbor the most common genetic defect causing juvenile neuronal ceroid lipofuscinosis (JNCL), an autosomal recessive disease involving seizures, visual, motor and cognitive decline, and premature death.
John F Staropoli, Larissa Haliw, Sunita Biswas, Lillian Garrett, Sabine M Hölter, Lore Becker, Sergej Skosyrski, Patricia Da Silva-Buttkus, Julia Calzada-Wack, Frauke Neff, Birgit Rathkolb, Jan Rozman, Anja Schrewe, Thure Adler, Oliver Puk, Minxuan Sun, Jack Favor, Ildikó Racz, Raffi Bekeredjian, Dirk H Busch, Jochen Graw, Martin Klingenspor, Thomas Klopstock, Eckhard Wolf, Wolfgang Wurst, Andreas Zimmer, Edith Lopez, Hayat Harati, Eric Hill, Daniela S Krause, Jolene Guide, Ella Dragileva, Evan Gale, Vanessa C Wheeler, Rose-Mary Boustany, Diane E Brown, Sylvie Breton, Klaus Ruether, Valérie Gailus-Durner, Helmut Fuchs, Martin Hrabě de Angelis, Susan L Cotman   +41 more
doaj   +1 more source

The Effect of Protein Tagging on Aggregation and Phase Separation

Journal of Cellular Biochemistry, Volume 127, Issue 6, June 2026.
ABSTRACT Protein tags are widely used for purification, solubilization, detection, and imaging, yet they can substantially alter protein self‐assembly. This interference is particularly significant for intrinsically disordered proteins and low‐complexity domains, whose aggregation and phase separation are mediated by weak multivalent interactions that ...
Harunobu Saito, Kenji Sugase
wiley   +1 more source

Loss of the lysosomal protein CLN3 triggers c-Abl-dependent YAP1 pro-apoptotic signaling

EMBO Reports
Batten disease is characterized by early-onset blindness, juvenile dementia and death within the second decade of life. The most common genetic cause are mutations in CLN3, encoding a lysosomal protein.
Neuza Domingues, Alessia Calcagni’, Sofia Freire, Joana Pires, Ricardo Casqueiro, Ivan L Salazar, Niculin Joachim Herz, Tuong Huynh, Katarzyna Wieciorek, Tiago Fleming Outeiro, Henrique Girão, Ira Milosevic, Andrea Ballabio, Nuno Raimundo   +13 more
doaj   +1 more source

Efficacy of phosphodiesterase‐4 inhibitors in juvenile Batten disease (CLN3) [PDF]

Annals of Neurology, 2016
ObjectiveJuvenile neuronal ceroid lipofuscinosis (JNCL), or juvenile Batten disease, is a pediatric lysosomal storage disease caused by autosomal recessive mutations in CLN3, typified by blindness, seizures, progressive cognitive and motor decline, and premature death.
Aldrich, Amy, Bosch, Megan E, Fallet, Rachel, Odvody, Jessica, Burkovetskaya, Maria, Rao, Kakulavarapu V Rama, Cooper, Jonathan D, Drack, Arlene V, Kielian, Tammy   +8 more
openaire   +4 more sources