Results 51 to 60 of about 2,376 (188)

Integrated Proteomic and scRNA‐Seq Analysis Reveals Pyroptosis‐Related Subtypes in Lung Adenocarcinoma

The Clinical Respiratory Journal, Volume 20, Issue 7, July 2026.
ABSTRACT Background Pyroptosis is a recently identified form of programmed cell death that plays an important role in cancer initiation and progression. However, the function of pyroptosis in lung adenocarcinoma (LUAD) remains unclear. The study integrated proteomic and single‐cell RNA sequence (scRNA‐seq) data to investigate the potential role of ...
Tianchang Wei, Yongqi Wei, Weiqi Mao, Cuiping Zhang, Jian Xu, Chunlai Lu, Yuanlin Song, Xiaoyan Chen   +7 more
wiley   +1 more source

The neuronal ceroid-lipofuscinoses: A historical introduction

, 2013
The neuronal ceroid-lipofuscinoses (Batten disease) collectively constitute one of the most common groups of inherited childhood onset neurodegenerative disorders, and have also been identified in many domestic and laboratory animals.
Goebel, Hans H., Haltia, Matti
core   +1 more source

A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease

Arquivos de Neuro-Psiquiatria
Background Neuronal ceroid lipofuscinoses (NCL) are a group of autosomal recessive, inherited, lysosomal, and neurodegenerative diseases that causes progressive dementia, seizures, movement disorders, language delay/regression, progressive ...
Charles Marques Lourenço, Juliana Maria Ferraz Sallum, Alessandra Marques Pereira, Paula Natale Girotto, Fernando Kok, Daniel Reda Fenga Vilela, Erika Barron, André Pessoa, Bibiana Mello de Oliveira   +8 more
doaj   +1 more source

Induced Pluripotent Stem Cells Derived from a CLN5 Patient Manifest Phenotypic Characteristics of Neuronal Ceroid Lipofuscinoses. [PDF]

Int J Mol Sci, 2017
Neuronal ceroid lipofuscinoses (NCLs) are autosomal recessive progressive encephalopathies caused by mutations in at least 14 different genes. Despite extensive studies performed in different NCL animal models, the molecular mechanisms underlying ...
Uusi-Rauva K, Blom T, von Schantz-Fant C, Blom T, Jalanko A, Kyttälä A.   +5 more
europepmc   +2 more sources

Sex‐Dependent Effects of CSF1R‐Mediated Myeloid Cell Depletion in a Mouse Model of Multiple System Atrophy

European Journal of Neuroscience, Volume 63, Issue 12, June 2026.
Myeloid cell depletion in males is rapid and initially more effective than in females, which leads to reduced occurrence of dystonia‐like neurological symptoms and alleviated neuronal loss in a mouse model of MSA. Overall, these findings indicate that the therapeutic efficacy of CSF1R‐mediated myeloid cell depletion in MSA is sex‐specific. ABSTRACT Sex‐
Kristina Battis, Michael Mante, Isabel Naumann, Marie Andert, Ha Yeon Kim, Wei Xiang, Robert A. Rissman, Jürgen Winkler, Alana Hoffmann   +8 more
wiley   +1 more source

Experimental therapies in the neuronal ceroid lipofuscinoses

, 2015
The neuronal ceroid lipofuscinoses represent a group of severe childhood lysosomal storage diseases. With at least 13 identified variants they are the most common cause of inherited neurodegeneration in children.
Hofmann, Sandra L., Hughes, Stephanie M., Neverman, Nicole J., Best, Hannah L.   +3 more
core   +1 more source

Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis [PDF]

, 2019
Treatment of the neuronal ceroid lipofuscinoses, also known as Batten disease, is at the start of a new era because of diagnostic and therapeutic advances relevant to this group of inherited neurodegenerative and life-limiting disorders that affect ...
Anderson, G, Kleine Holthaus Sophia-Martha, Kleine Holthaus, S-M, Kleine Holthaus, SM, Berkovic, SF, Cooper Jonathan D., Rahim Ahad A., McKay Tristan R., Berkovic Samuel F., Mole Sara E., Schulz Angela, Band, HA, Medina, DL, Rahim, AA, Band Heather A., Anderson Glenn, Medina D, Mole, SE, Cooper, JD, Smith Alexander J., Smith, AJ, McKay, TR, Schulz, A   +22 more
core   +1 more source

Table1_Case Report: Novel MFSD8 Variants in a Chinese Family With Neuronal Ceroid Lipofuscinoses 7.docx

, 2022
Neuronal ceroid lipofuscinoses (NCLs) are among the most common progressive encephalopathies of childhood. Neuronal ceroid lipofuscinosis 7 (CLN7), one of the late infantile-onset NCLs, is an autosomal recessive disorder caused by mutations in the MFSD8 ...
Qinghe Xing (277666), Nan Lv (798889), Ye Cheng (513097), Qing Shang (5449502), Yang Gu (400592), Yimeng Qiao (9683681), Yu Su (460400)   +6 more
core   +1 more source

Integrative human and murine multi-omics: Highlighting shared biomarkers in the neuronal ceroid lipofuscinoses

Neurobiology of Disease, 2023
Neuronal ceroid lipofuscinosis (NCL) is a group of neurodegenerative disorders whose molecular mechanisms remain largely unknown. Omics approaches are among the methods that generate new information on modifying factors and molecular signatures. Moreover,
N. Gammaldi, F. Pezzini, E. Michelucci, N. Di Giorgi, A. Simonati, S. Rocchiccioli, F.M. Santorelli, S. Doccini   +7 more
doaj   +1 more source

Mapping Clinical Progression to Brain Atrophy in CLN2 Patients Under Cerliponase Alfa Treatment: A Prospective Neuroimaging Study

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Neuronal ceroid lipofuscinosis type 2 (CLN2) disease, a lysosomal storage disorder, causes early childhood psychomotor regression, vision loss, seizures, and rapid progressive gray matter loss. However, the link between neurodegenerative processes induced by lysosomal pathophysiology and the clinical phenotype remains unclear.
Marvin Petersen, Lena Marie Westermann, Luca Hagenah, Miriam Nickel, Christoph Schwering, Eva Wibbeler, Felix L. Naegele, Nils‐Ole Gloyer, Fabian Flottmann, Jens Fiehler, Götz Thomalla, Bastian Cheng, Angela Schulz   +12 more
wiley   +1 more source