Results 121 to 130 of about 1,071 (153)

Investigation of the Batten Disease protein CLN6.

openaire   +1 more source

Crystal structure of bis-{5-(4-chloro-phen-yl)-3-[6-(1H-pyrazol-1-yl)pyridin-2-yl]-1H-1,2,4-triazol-1-ido}nickel(II) methanol disolvate. [PDF]

Acta Crystallogr E Crystallogr Commun
Znovjyak K, Shova S, Panov DM, Kariaka NS, Fritsky IO, Malinkin SO, Seredyuk M.   +6 more
europepmc   +1 more source

Discovery and biosynthesis of biffamycin A – a novel glycotetrapeptide antibiotic

Brigham MW, Hems ES, Van DCL, Clarke JE, Nepogodiev S, Bassi C, Webb ME, Hemsworth GR, Wilkinson B, Seipke RF.   +9 more
europepmc   +1 more source

Some of the next articles are maybe not open access.

Related searches:

CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein

Experimental Cell Research, 2004
The neuronal ceroid lipofuscinoses (NCLs) are severe inherited neurodegenerative disorders affecting children. In this disease, lysosomes accumulate autofluorescent storage material and there is death of neurons. Five types of NCL are caused by mutations in lysosomal proteins (CTSD, CLN1/PPT1, CLN2/TTPI, CLN3 and CLN5), and one type is caused by ...
Daniel Cutler, Gregoire Michaux, Sara Mole   +2 more
exaly   +3 more sources

Modeling CLN6 with IPSC-derived neural cells

Molecular Genetics and Metabolism, 2019
Neuronal ceroid lipofuscionosis type 6 (CLN6) is a neurodegenerative disease associated with dementia, seizures, and retinopathy. The disorder is due to mutations in the CLN6 gene encoding a resident ER transmembrane protein of unknown function. Similar to other NCLs, the cellular pathology associated with CLN6 includes the abnormal accumulation of ...
Tyler Mark Pierson, Maria Gabriella Otero, David Fabian Nonis, Jaemin Kim   +3 more
openaire   +1 more source

Fine mapping of ovine ceroid lipofuscinosisconfirms orthology with CLN6

European Journal of Paediatric Neurology, 2001
The neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage diseases with severe neurodegenerative pathology. An ovine model (OCL) has well defined parallels with the human disease at a biochemical and pathological level. The gene for OCL is located in the chromosomal region OAR 7q13-15. This region is syntenic with HSA 15q21-23 suggesting that OCL
M F, Broom, C, Zhou
openaire   +2 more sources

Progress toward the Cloning of CLN6, the Gene Underlying a Variant LINCL

Molecular Genetics and Metabolism, 1999
Marked clinical heterogeneity is seen in the late-infantile subtype of NCL (LINCL), complicating genetic analysis. In addition to the classical subtype, encoded by CLN2 on chromosome 11p15.5, several variant subtypes have also been described. In this paper, we report our progress in cloning a variant LINCL gene mapped in a small group of Costa Rican ...
K J, Auger, A, Ajene, T, Lerner
openaire   +2 more sources