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CLN6’s luminal tail-mediated functional interference between CLN6 mutants as a novel pathomechanism for the neuronal ceroid lipofuscinoses

CLN6’s luminal tail-mediated functional interference between CLN6 mutants as a novel pathomechanism for the neuronal ceroid lipofuscinoses
CLN6 (Ceroid Lipofuscinosis, Neuronal, 6) is a 311-amino acid protein spanning the endoplasmic reticulum membrane. Mutations in CLN6 are linked to CLN6 disease, a hereditary neurodegenerative disorder categorized into the neuronal ceroid lipofuscinoses.
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Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy. [PDF]

Int J Mol Sci, 2023
Martínez-Rubio D, Hinarejos I, Argente-Escrig H, Marco-Marín C, Lozano MA, Gorría-Redondo N, Lupo V, Martí-Carrera I, Miranda C, Vázquez-López M, García-Pérez A, Marco-Hernández AV, Tomás-Vila M, Aguilera-Albesa S, Espinós C.   +14 more
europepmc   +1 more source

Strategies to treat neurodegeneration in neuronal ceroid lipofuscinosis: a view onto the retina. [PDF]

Neural Regen Res, 2023
Bartsch U.
europepmc   +1 more source

Corrigendum to A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer. [PDF]

J Clin Invest
Bajaj L, Sharma J, di Ronza A, Zhang P, Eblimit A, Pal R, Roman D, Collette JR, Booth C, Chang KT, Sifers RN, Jung SY, Weimer JM, Chen R, Schekman RW, Sardiello M.   +15 more
europepmc   +1 more source

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

Structural adaptability and hydrogen bonding in a dissymmetric pyrimidine thioether ligand. [PDF]

Acta Crystallogr C Struct Chem
Anoliefo K, Brown K, Hiscock LK, Boyle PD, Dawe LN.   +4 more
europepmc   +1 more source

Neuropsychiatric manifestations of Kufs disease. [PDF]

Indian J Psychiatry
Vijayan S, Selvaraj A.
europepmc   +1 more source

Whole exome screening of neurodevelopmental regression disorders in a cohort of Egyptian patients. [PDF]

Neurogenetics, 2023
Refeat MM, Naggar WE, Saied MME, Kilany A.   +3 more
europepmc   +1 more source

Neuronal Ceroid Lipofuscinosis-Concepts, Classification, and Avenues for Therapy. [PDF]

CNS Neurosci Ther
Zhang Y, Du B, Zou M, Peng B, Rao Y.
europepmc   +1 more source

Neuronal ceroid lipofuscinosis: underlying mechanisms and emerging therapeutic targets. [PDF]

Nat Rev Neurol
Ziółkowska EA, Takahashi K, Dickson PI, Sardiello M, Sands MS, Cooper JD.   +5 more
europepmc   +1 more source