U.S. flag

An official website of the United States government

Display Settings:

Format
Sort by

Send to:

Choose Destination

Links from Protein

Items: 3

1.
A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report
Anastasiya Aleksandrovna Kozina, Elena Grigorievna Okuneva, Natalia Vladimirovna Baryshnikova, Anna Yurievna Krasnenko, Kirill Yurievich Tsukanov, Olesya Igorevna Klimchuk, Olga Borisovna Kondakova, Anna Nikolaevna Larionova, Tatyana Timofeevna Batysheva, Ekaterina Ivanovna Surkova, Peter Alekseevich Shatalov, Valery Vladimirovich Ilinsky
BMC Med Genet. 2018; 19: 151. Published online 2018 Aug 25. doi: 10.1186/s12881-018-0669-7
PMCID:
PMC6109285
AbstractArticlePDF–1.9M
2.
Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation
Tatyana Danyukova, Khandsuren Ariunbat, Melanie Thelen, Nahal Brocke-Ahmadinejad, Sara E Mole, Stephan Storch
Hum Mol Genet. 2018 May 15; 27(10): 1711–1722. Published online 2018 Mar 5. doi: 10.1093/hmg/ddy076
PMCID:
PMC5932567
AbstractArticlePDF–710K
3.
The Novel Neuronal Ceroid Lipofuscinosis Gene MFSD8 Encodes a Putative Lysosomal Transporter
Eija  Siintola, Meral  Topcu, Nina  Aula, Hannes  Lohi, Berge A.  Minassian, Andrew D.  Paterson, Xiao-Qing  Liu, Callum  Wilson, Ulla  Lahtinen, Anna-Kaisa  Anttonen, Anna-Elina  Lehesjoki
Am J Hum Genet. 2007 Jul; 81(1): 136–146. Published online 2007 May 14. doi: 10.1086/518902
PMCID:
PMC1950917
AbstractArticlePDF–701K

Display Settings:

Format
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center