Results 71 to 80 of about 4,913 (183)

Untargeted Metabolomics for Diagnosis, Monitoring, and Understanding the Pathophysiology of Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Inherited metabolic disorders (IMDs) encompass a diverse and expanding group of rare diseases caused by genetic disruptions mainly in metabolic enzymes and transporters. Clinical diagnosis of IMDs presents significant challenges due to phenotypic heterogeneity, nonspecific symptoms, and the limited scope of current targeted biochemical assays ...
Jonathan Martens, Udo F. H. Engelke, Ron A. Wevers, Dirk J. Lefeber, Purva Kulkarni   +4 more
wiley   +1 more source

CBD for CLN2 disease [dataset]

This dataset provides supporting data for the manuscript titled "Chronic oral cannabidiol delays or prevents seizures in a mouse model of CLN2 disease" and is deposited to comply with PLOS One data availability requirements.
Jian, Xing
core   +1 more source

G1-faasi tsükliinist sõltuva kinaasi kompleksi Cln2-Cdk1 substraatide valiku mehhanismid [PDF]

, 2016
Saccharomyces cerevisiae Cdk1 reguleerib erinevate valkude fosforüleerimise kaudu kogu rakutsükli toimimist. Eri aegadel seondub Cdk1 erinevate tsükliinidega. Mitmed Cdk1 substraadid on enim fosforüleeritud G1-faasis, mil Cdk1 on kompleksis tsükliiniga
Örd, Mihkel
core  

Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis [PDF]

, 2016
Neuronal ceroid lipofuscinoses (NCLs) are a heterogeneous group of lysosomal storage disorders. NCLs include the rare autosomal recessive neurodegenerative disorder neuronal ceroid lipofuscinosis type 2 (CLN2) disease, caused by mutations in the ...
AlSayed, M, AlSayed, Moeenaldeen, Cooper, Jonathan D., de Halac, Ines Noher, Miller, Nicole, Fietz, M, Pearce, DA, Izzo, Emanuela, Lukacs, Zoltan, Izzo, E, Giugliani, R, Poupetova, H, Jahnová, Helena, Dvořáková, Lenka, Burke, D, Burke, Derek, Cohen-Pfeffer, Jessica, Schulz, Angela, Cohen-Pfeffer, J, Xin, W, Noher de Halac, I, Specchio, N, Poupetova, Helena, Xin, Winnie, Miller, N, Giugliani, Roberto, Lukacs, Z, Pearce, David A., Mole, Sara E., Jahnová, H, Fietz, Michael, Dvořáková, L, Mole, SE, Cooper, JD, Specchio, Nicola, Schulz, A   +35 more
core   +1 more source

The impact of Cln2 degron and Cln2 promoter on protein expression levels

, 2021
Precise regulation of the cell cycle events is essential for correct DNA replication and successful cell reproduction. Progression through the cell cycle is tightly controlled over a multisite phosphorylation network. Phosphorylation of specific amino acids (phosphory-lation sites, or phosphosites) might either activate a protein or send it for ...
openaire   +1 more source

First in man study of intravitreal tripeptidyl peptidase 1 for CLN2 retinopathy [PDF]

, 2023
BACKGROUND/OBJECTIVES: CLN2 Batten Disease is a fatal neurodegenerative condition of childhood associated with retinal dystrophy and blindness. Intracerebroventricular infusion of rhTPP1 greatly slows the rate of neurodegenerative decline but not ...
Gan, Chin, Mills, Philippa, Ram, Dipak, Thompson, Dorothy Ann, Whiteley, Rebecca, Bowman, Richard, Gissen, Paul, Wawrzynski, James, Mortensen, Amanda, Harding, Louise, Martinez, Ana Rodriguez, Henderson, Robert H   +11 more
core   +1 more source

MoMtg1 Acts as a Novel Transcriptional Repressor of MoSwi6 During Appressorium‐Mediated Penetration in the Rice Blast Fungus

Advanced Science, Volume 12, Issue 43, November 20, 2025.
Appressoria are specialized penetration structures for many plant pathogenic fungi, demanding precise cell cycle control. This study unveils MoMtg1 as a transcriptional repressor of MoSwi6, orchestrating MoCYC1 expression during turgor‐driven cell cycle progression to enable appressorium‐mediated penetration. Moreover, a small‐molecule inhibitor ZS1619
Xingyu Wang, Ting Zhang, Qi Li, Chang‐An Ji, Lin Huang, Mingzhi Zhang, Leiyun Yang, Xinyu Liu, Muxing Liu, Gang Li, Zhengguang Zhang, Haifeng Zhang   +11 more
wiley   +1 more source

Exploring concurrent validity of the CLN2 Clinical Rating Scale: Comparison to PedsQL using cerliponase alfa clinical trial data.

PLoS ONE
BackgroundThe CLN2 Clinical Rating Scale evaluates disease progression in CLN2 disease, an ultra-rare, neurodegenerative disorder with late infantile onset. To validate the Clinical Rating Scale, a comparison with the Pediatric Quality of Life Inventory (
Nicola Specchio, Paul Gissen, Emily de Los Reyes, Andrew Olaye, Charlotte Camp, Tristan Curteis, Annabel Griffiths, Thomas Butt, Jessica Cohen-Pfeffer, Peter Slasor, Zlatko Sisic, Mohit Jain, Angela Schulz   +12 more
doaj   +1 more source

Flupirtine derivatives as potential treatment for the neuronal ceroid lipofuscinoses

Annals of Clinical and Translational Neurology, 2018
Objective Neuronal Ceroid Lipofuscinoses (NCL) are fatal inherited neurodegenerative diseases with established neuronal cell death and increased ceramide levels in brain, hence, a need for disease‐modifying drug candidates, with potential to enhance ...
Joelle Makoukji, Fadi Saadeh, Karl Albert Mansour, Sally El‐Sitt, Jamal Al Ali, Nihar Kinarivala, Paul C. Trippier, Rose‐Mary Boustany   +7 more
doaj   +1 more source

Trial Readiness: Understanding the Natural History of Rare Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Inherited metabolic diseases (IMD) represent the largest and still growing group of treatable genetic disorders and are increasingly amenable to targeted interventions that achieve varying degrees of prognostic improvement. Innovative therapies are on the horizon and offer promising opportunities for disease‐changing treatment for a variety of
Thomas Opladen, Ulrike Mütze, Florian Gleich, Sven F. Garbade, Oya Kuseyri Hübschmann, Matthias Zielonka, Stefan Kölker   +6 more
wiley   +1 more source