PMC Links for Protein (Select 1706865970) - PMC

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Items: 3

Select item 61092851.

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

Abstract Article PDF–1.9M

Select item 59325672.

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

Abstract Article PDF–710K

Select item 19509173.

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