Zobrazeno 1 - 10
of 96
pro vyhledávání: '"Robert J Huber"'
Autor:
Megan M. Aoki, Anna B. Kisiala, Scott C. Farrow, Craig R. Brunetti, Robert J. Huber, R.J. Neil Emery
Publikováno v:
Biochemistry and Biophysics Reports, Vol 39, Iss , Pp 101756- (2024)
Lonely guy (LOG) proteins are phosphoribohydrolases (PRHs) that are key cytokinin (CK)-activating enzymes in plant and non-plant CK-producing organisms. During CK biosynthesis, LOGs catalyze the conversion of precursor CK-nucleotides (CK-NTs) to biol
Externí odkaz:
https://doaj.org/article/95751defe5ff4551a583dc6ce1522547
Publikováno v:
PLoS ONE, Vol 9, Iss 10, p e110544 (2014)
The neuronal ceroid lipofuscinoses (NCL) are a group of inherited, severe neurodegenerative disorders also known as Batten disease. Juvenile NCL (JNCL) is caused by recessive loss-of-function mutations in CLN3, which encodes a transmembrane protein t
Externí odkaz:
https://doaj.org/article/8e771adcc3de477dbb5616cd9d6d1b81
Publikováno v:
European Journal of Cell Biology, Vol 102, Iss 4, Pp 151361- (2023)
Major facilitator superfamily domain-containing protein 8 (MFSD8) is a transmembrane protein that has been reported to function as a lysosomal chloride channel. In humans, homozygous mutations in MFSD8 cause a late-infantile form of neuronal ceroid l
Externí odkaz:
https://doaj.org/article/5f23394d979c4523995e08666c1666d7
Autor:
Adam A.N. Remtulla, Robert J. Huber
Publikováno v:
European Journal of Cell Biology, Vol 102, Iss 2, Pp 151305- (2023)
The neuronal ceroid lipofuscinoses (NCLs), collectively referred to as Batten disease, are a group of fatal neurodegenerative disorders that primarily affect children. The etiology of Batten disease is linked to mutations in 13 genes that encode dist
Externí odkaz:
https://doaj.org/article/20a279acdbf441bba1aad52d47ad7c1d
Autor:
William D. Kim, Robert J. Huber
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Mutations in CLN5 cause a subtype of neuronal ceroid lipofuscinosis (NCL) called CLN5 disease. The NCLs, commonly referred to as Batten disease, are a family of neurodegenerative lysosomal storage diseases that affect all ages and ethnicities globall
Externí odkaz:
https://doaj.org/article/9bd8f8b0a8014bedb7586feb25bbefa4
Mfsd8 Modulates Growth and the Early Stages of Multicellular Development in Dictyostelium discoideum
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
MFSD8 is a transmembrane protein that has been reported to transport chloride ions across the lysosomal membrane. Mutations in MFSD8 are associated with a subtype of Batten disease called CLN7 disease. Batten disease encompasses a family of 13 inheri
Externí odkaz:
https://doaj.org/article/343531e063fa490ebf55878366515843
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
Externí odkaz:
https://doaj.org/article/81a4b0c28471481582d666f6907372e3
Autor:
Robert J. Huber
Publikováno v:
Journal of Biomedical Science, Vol 27, Iss 1, Pp 1-16 (2020)
Abstract The neuronal ceroid lipofuscinoses (NCLs), commonly known as Batten disease, belong to a family of neurological disorders that cause blindness, seizures, loss of motor function and cognitive ability, and premature death. There are 13 differe
Externí odkaz:
https://doaj.org/article/6b3cc86f13a14098a0db37a7f83e9a81
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Mutations in CLN5 cause a subtype of neuronal ceroid lipofuscinosis (NCL) called CLN5 disease. While the precise role of CLN5 in NCL pathogenesis is not known, recent work revealed that the protein has glycoside hydrolase activity. Previous work on t
Externí odkaz:
https://doaj.org/article/b014e2beab594a958c545b9d4b975230
Autor:
Robert J. Huber
Publikováno v:
Journal of Neurochemistry. 165:643-659
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::763db5f588349241571e5758cbc2f519
https://doi.org/10.1111/jnc.15822
https://doi.org/10.1111/jnc.15822