TY  - JOUR 
AU  - López Fabuel, Irene
AU  - García Macia, Marina
AU  - Buondelmonte, Costantina
AU  - Burmistrova, Olga
AU  - Bonora, Nicoló
AU  - Alonso-Batán, Paula
AU  - Morant Ferrando, Brenda
AU  - Vicente Gutiérrez, Carlos
AU  - Jiménez Blasco, Daniel
AU  - Quintana Cabrera, Rubén
AU  - Fernández Sánchez, Emilio
AU  - Llop, Jordi
AU  - Ramos-Cabrer, Pedro
AU  - Sharaireh, Aseel
AU  - Guevara-Ferrer, Marta
AU  - Fitzpatrick, Lorna
AU  - Thompton, Christopher D
AU  - McKay, Tristan R
AU  - Storch, Stephan
AU  - Medina, Diego L
AU  - Mole, Sara E
AU  - Fedichev, Peter O
AU  - Almeida Parra, María Ángeles
AU  - Bolaños Hernández, Juan Pedro
PY  - 2022
UR  - http://hdl.handle.net/10366/154930
AB  - [EN]CLN7 neuronal ceroid lipofuscinosis is an inherited lysosomal storage neurodegenerative disease highly prevalent in children. CLN7/MFSD8 gene encodes a lysosomal membrane glycoprotein, but the biochemical processes affected by CLN7-loss of...
LA  - eng
PB  - Nature Research
KW  - Glycolytic enzyme PFKFB3
KW  - CLN7 neuronal ceroid lipofuscinosis
KW  - Membrane Transport Proteins
KW  - Neurons
KW  - Mitochondria
KW  - Neuronal Ceroid-Lipofuscinoses
KW  - Phosphofructokinase-2
KW  - Animals
KW  - Humans
KW  - Up-Regulation
KW  - Lysosomal Storage Diseases
KW  - Autophagy
KW  - Lysosomes
KW  - Mice
TI  - Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis
DO  - 10.1038/s41467-022-28191-1
T2  - Nature Communications
VL  - 13
ER  -