Results 101 to 110 of about 4,913 (183)

Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series [PDF]

, 2020
Background: The classic phenotype of CLN2 disease (neuronal ceroid lipofuscinosis type 2) typically manifests between ages 2 and 4 years with a predictable clinical course marked by epilepsy, language developmental delay, and rapid psychomotor decline.
Lee, L, Cohen-Pfeffer, J, Specchio, N, Reyes, EDL, Wibbeler, E, Amato, G, Schwering, C, Gissen, P, Shediac, R, Lehwald, L, Guelbert, N, Trivisano, M, Wang, R, Nickel, M, Leal-Pardinas, F, Schulz, A   +15 more
core  

Comparison of the Saccharomyces cerevisiae G1 cyclins: Cln3 may be an upstream activator of Cln1, Cln2 and other cyclins

, 1993
In the budding yeast Saccharomyces cerevisiae, the G1 cyclins Cln1, Cln2 and Cln3 regulate entry into the cell cycle (Start) by activating the Cdc28 protein kinase.
Tyers, M., Futcher, B., Tokiwa, G.
core  

Difficulties in treating CLN2 through enzyme replacement therapy

Arquivos de Neuro-Psiquiatria, 2023
Erlane Marques Ribeiro, Aline Campos Fontenele Rodrigues, Raffaela Neves Mont'Alverne Napoleão, Mariana de Souza Rocha Teixeira, Beatriz Esmeraldo Teixeira, Ester Mara Rodrigues Freire, Rosicler Pereira de Gois, Tamiris Carneiro Mariano, André Luiz Santos Pessoa   +8 more
openaire   +1 more source

A cyclin-polarity feedback network ensures healthy cell proliferation. [PDF]

Nat Commun
Peyran L, Lefranc C, Gygi SP, Royou A, McCusker D.   +4 more
europepmc   +1 more source

Nucleotide sequence of theSaccharomyces cerevisiae CLN1andCLN2genes [PDF]

Nucleic Acids Research, 1990
J. A. Hadwiger, S. I. Reed
openaire   +3 more sources

LC-HRMS-Based Metabolic Profiling of the REV-ERB Agonist SR9009 in Camel Liver Homogenate and Cunninghamella elegans for Anti-Doping Analysis. [PDF]

Rapid Commun Mass Spectrom
Palathinkal AB, Farook Basha S, Laya S, Nalakath J, Praseen OK, Joseph M, Jose SV.   +6 more
europepmc   +1 more source

Antibiotic treatment reveals the contributions of the gut microbiome to CLN2 disease in the central and enteric nervous system. [PDF]

Sci Rep
Ziółkowska EA, Nix P, Olszowy B, Williams LL, Eultgen EM, Nowacka A, Celorrio M, Friess SH, Heuckeroth RO, Cooper JD.   +9 more
europepmc   +1 more source

Peripapillary Retinal Nerve Fiber Layer (pRNFL) Thickness – A Novel Biomarker of Neurodegeneration in Late-Infantile CLN2 Disease

Eye and Brain
Nikolaos Gkalapis,1,2,* Simon Dulz,1,* Carsten Grohmann,1 Miriam Nickel,3 Christoph Schwering,3 Eva Wibbeler,3 Martin Stephan Spitzer,1 Angela Schulz,3 Yevgeniya Atiskova1 1Department of Ophthalmology, University Medical Center Hamburg-Eppendorf,
Gkalapis N, Dulz S, Grohmann C, Nickel M, Schwering C, Wibbeler E, Spitzer MS, Schulz A, Atiskova Y   +8 more
doaj  

PPARα and RXRα in the regulation of neuronal ceroid lipofuscinosis genes: implications for Batten disease therapy. [PDF]

NeuroImmune Pharm Ther
Chandra S, Pahan K.
europepmc   +1 more source

Intrathecal enzyme replacement therapy for CLN2 disease [PDF]

Cellular Therapy and Transplantation, 2019
openaire   +1 more source