@article {571,
	title = {Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy.},
	journal = {Nat Commun},
	volume = {10},
	year = {2019},
	month = {2019 02 15},
	pages = {797},
	abstract = {<p>FXR1 is an alternatively spliced gene that encodes RNA binding proteins (FXR1P) involved in muscle development. In contrast to other tissues, cardiac and skeletal muscle express two FXR1P isoforms that incorporate an additional exon-15. We report that recessive mutations in this particular exon of FXR1 cause congenital multi-minicore myopathy in humans and mice. Additionally, we show that while Myf5-dependent depletion of all FXR1P isoforms is neonatal lethal, mice carrying mutations in exon-15 display non-lethal myopathies which vary in severity depending on the specific effect of each mutation on the protein.</p>},
	keywords = {Animals, Cells, Cultured, Exons, Gene Expression, Genes, Recessive, Genetic Predisposition to Disease, HEK293 Cells, HeLa Cells, Humans, Mice, Transgenic, Muscle, Skeletal, Mutation, Myopathies, Structural, Congenital, Ophthalmoplegia, RNA-Binding Proteins, Ryanodine Receptor Calcium Release Channel},
	issn = {2041-1723},
	doi = {10.1038/s41467-019-08548-9},
	author = {Esta{\~n}, Mar{\'\i}a Cristina and Fern{\'a}ndez-N{\'u}{\~n}ez, Elisa and Zaki, Maha S and Esteban, Mar{\'\i}a Isabel and Donkervoort, Sandra and Hawkins, Cynthia and Caparros-Martin, Jos{\'e} A and Saade, Dimah and Hu, Ying and Bolduc, Veronique and Chao, Katherine Ru-Yui and Nevado, Juli{\'a}n and Lamuedra, Ana and Largo, Raquel and Herrero-Beaumont, Gabriel and Regadera, Javier and Hernandez-Chico, Concepci{\'o}n and Tizzano, Eduardo F and Martinez-Glez, Victor and Carvajal, Jaime J and Zong, Ruiting and Nelson, David L and Otaify, Ghada A and Temtamy, Samia and Aglan, Mona and Issa, Mahmoud and B{\"o}nnemann, Carsten G and Lapunzina, Pablo and Yoon, Grace and Ruiz-Perez, Victor L}
}
@article {179,
	title = {Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.},
	journal = {Nat Genet},
	volume = {47},
	year = {2015},
	month = {2015 May},
	pages = {528-34},
	abstract = {<p>Pediatric-onset ataxias often present clinically as developmental delay and intellectual disability, with prominent cerebellar atrophy as a key neuroradiographic finding. Here we describe a new clinically distinguishable recessive syndrome in 12 families with cerebellar atrophy together with ataxia, coarsened facial features and intellectual disability, due to truncating mutations in the sorting nexin gene SNX14, encoding a ubiquitously expressed modular PX domain-containing sorting factor. We found SNX14 localized to lysosomes and associated with phosphatidylinositol (3,5)-bisphosphate, a key component of late endosomes/lysosomes. Patient-derived cells showed engorged lysosomes and a slower autophagosome clearance rate upon autophagy induction by starvation. Zebrafish morphants for snx14 showed dramatic loss of cerebellar parenchyma, accumulation of autophagosomes and activation of apoptosis. Our results characterize a unique ataxia syndrome due to biallelic SNX14 mutations leading to lysosome-autophagosome dysfunction. </p>},
	keywords = {Animals, Atrophy, Autophagy, Cerebellar Diseases, Cerebellum, Child, Preschool, Female, Gene Frequency, Humans, Infant, Lod Score, Lysosomal Storage Diseases, Lysosomes, Male, Mutation, Phagosomes, Sorting Nexins, Spinocerebellar Ataxias, Syndrome, Zebrafish},
	issn = {1546-1718},
	doi = {10.1038/ng.3256},
	author = {Akizu, Naiara and Cantagrel, Vincent and Zaki, Maha S and Al-Gazali, Lihadh and Wang, Xin and Rosti, Rasim Ozgur and Dikoglu, Esra and Gelot, Antoinette Bernabe and Rosti, Basak and Vaux, Keith K and Scott, Eric M and Silhavy, Jennifer L and Schroth, Jana and Copeland, Brett and Schaffer, Ashleigh E and Gordts, Philip L S M and Esko, Jeffrey D and Buschman, Matthew D and Field, Seth J and Napolitano, Gennaro and Abdel-Salam, Ghada M and Ozgul, R Koksal and Sag{\i}roglu, Mahmut Samil and Azam, Matloob and Ismail, Samira and Aglan, Mona and Selim, Laila and Mahmoud, Iman G and Abdel-Hadi, Sawsan and Badawy, Amera El and Sadek, Abdelrahim A and Mojahedi, Faezeh and Kayserili, H{\"u}lya and Masri, Amira and Bastaki, Laila and Temtamy, Samia and M{\"u}ller, Ulrich and Desguerre, Isabelle and Casanova, Jean-Laurent and Dursun, Ali and G{\"u}nel, Murat and Gabriel, Stacey B and de Lonlay, Pascale and Gleeson, Joseph G}
}
