Results 41 to 50 of about 1,809 (153)

A novel myopathy with autophagic vacuoles associated with biallelic variants in CLN8

Brain Pathology, EarlyView.
We describe a novel adult‐onset myopathy with autophagic vacuoles and characteristic features of ceroid lipofuscinosis associated with biallelic CLN8 variants, seizures, and muscle weakness. Autophagosomal/lysosomal deposition of curvilinear, autofluorescent material containing the mitochondrial adenosine triphosphate (ATP) synthase membrane subunit c ...
Ulrika Lindgren, Carola Hedberg‐Oldfors, Kittichate Visuttijai, Sara Nordström, Hans Goebel, Anders Oldfors   +5 more
wiley   +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

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

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

A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report

BMC Medical Genetics, 2018
Background Neuronal ceroid lipofuscinoses (NCLs) are the most common autosomal recessive neurodegenerative disorders in children. Clinical manifestations include progressive cognitive decline, motor impairment, ataxia, visual loss, seizures and early ...
Anastasiya Aleksandrovna Kozina, Elena Grigorievna Okuneva, Natalia Vladimirovna Baryshnikova, Anna Yurievna Krasnenko, Kirill Yurievich Tsukanov, Olesya Igorevna Klimchuk, Olga Borisovna Kondakova, Anna Nikolaevna Larionova, Tatyana Timofeevna Batysheva, Ekaterina Ivanovna Surkova, Peter Alekseevich Shatalov, Valery Vladimirovich Ilinsky   +11 more
doaj   +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

Integrative genomic and functional analyses reveal NINL as a modulator of tau aggregation

Alzheimer's &Dementia, Volume 22, Issue 4, April 2026.
Abstract INTRODUCTION Proteostasis dysfunction is a hallmark of frontotemporal dementia (FTD) and Alzheimer's disease (AD), yet the genetic and molecular pathways that disrupt protein homeostasis remain poorly understood. METHODS We integrated human genetics, transcriptomics, and functional studies to identify proteostasis network components involved ...
Samantha K. Swift, Guangming Huang, J. Nicholas Cochran, Ricardo D'Oliveira Albanus, Miguel A. Minaya, Patricia A. Castruita, Rui Zhang, Katherine J. Miller, Emma Starr, Grant Galasso, Jacob A. Marsh, Aimee W. Kao, Oscar Harari, Jennifer S. Yokoyama, Celeste M. Karch   +14 more
wiley   +1 more source

The mouse ortholog of the neuronal ceroid lipofuscinosis CLN5 gene encodes a soluble lysosomal glycoprotein expressed in the developing brain

Neurobiology of Disease, 2004
Neuronal ceroid lipofuscinoses (NCLs) are recessively inherited neurodegenerative lysosomal storage disorders characterized by progressive motor and mental retardation, visual failure, and epileptic seizures. Finnish variant late infantile NCL (vLINCLFin)
Ville Holmberg, Anu Jalanko, Juha Isosomppi, Anna-Liisa Fabritius, Leena Peltonen, Outi Kopra   +5 more
doaj   +1 more source

The c.863A>G (p.Glu288Gly) variant of the CTSD gene is not associated with CLN10 disease

Molecular Genetics & Genomic Medicine, 2021
Background Cathepsin D is a lysosomal aspartic protease encoded by the CTSD gene. It plays important roles in many biological processes. Biallelic loss‐of‐function mutation of CTSD is considered a cause of CLN10 disease.
Juan Yang, Xiaoting Ding, Shasha Meng, Jinhua Cai, Weihui Zhou   +4 more
doaj   +1 more source