| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Yijing Zhou, Vanessa B Sanchez, Peining Xu, Thomas Roule, Marco Flores-Mendez, Brianna Ciesielski, Donna Yoo, Hiab Teshome, Teresa Jimenez, Shibo Liu, Mike Henne, Tim O'Brien, Ye He, Clementina Mesaros, Naiara Akiz. Altered lipid homeostasis is associated with cerebellar neurodegeneration in SNX14 deficiency. JCI insight. 2024-04-16. PMID:38625743. |
here, we show that cerebellar neurodegeneration caused by sorting nexin 14 (snx14) deficiency is associated with lipid homeostasis defects. |
2024-04-16 |
2024-04-18 |
mouse |
| Yijing Zhou, Vanessa B Sanchez, Peining Xu, Thomas Roule, Marco Flores-Mendez, Brianna Ciesielski, Donna Yoo, Hiab Teshome, Teresa Jimenez, Shibo Liu, Mike Henne, Tim O'Brien, Ye He, Clementina Mesaros, Naiara Akiz. Altered lipid homeostasis is associated with cerebellar neurodegeneration in SNX14 deficiency. JCI insight. 2024-04-16. PMID:38625743. |
recent studies indicate that snx14 is an inter-organelle lipid transfer protein that regulates lipid transport, lipid droplet (ld) biogenesis, and fatty acid desaturation, suggesting that human snx14 deficiency belongs to an expanding class of cerebellar neurodegenerative disorders caused by altered cellular lipid homeostasis. |
2024-04-16 |
2024-04-18 |
mouse |
| Yijing Zhou, Vanessa B Sanchez, Peining Xu, Thomas Roule, Marco Flores-Mendez, Brianna Ciesielski, Donna Yoo, Hiab Teshome, Teresa Jimenez, Shibo Liu, Mike Henne, Tim O'Brien, Ye He, Clementina Mesaros, Naiara Akiz. Altered lipid homeostasis is associated with cerebellar neurodegeneration in SNX14 deficiency. JCI insight. 2024-04-16. PMID:38625743. |
altered lipid homeostasis is associated with cerebellar neurodegeneration in snx14 deficiency. |
2024-04-16 |
2024-04-18 |
mouse |
| Nadia Al-Hashmi, Mohammed Mohammed, Salim Al-Kathir, Naeema Al-Yarubi, Patrick Scot. Exome Sequencing Identifies a Novel Sorting Nexin 14 Gene Mutation Causing Cerebellar Atrophy and Intellectual Disability. Case reports in genetics. vol 2018. 2020-10-01. PMID:30473892. |
importantly, loss-of-function mutations in snx14 have recently been described as a cause of a clinically distinguishable recessive syndrome consisting of cerebellar atrophy, ataxia, coarsened facial features, and intellectual disability. |
2020-10-01 |
2023-08-13 |
Not clear |
| Joe Fenn, Mike Boursnell, Rebekkah J Hitti, Christopher A Jenkins, Rebecca L Terry, Simon L Priestnall, Patrick J Kenny, Cathryn S Mellersh, Oliver P Forma. Genome sequencing reveals a splice donor site mutation in the SNX14 gene associated with a novel cerebellar cortical degeneration in the Hungarian Vizsla dog breed. BMC genetics. vol 17. issue 1. 2017-09-13. PMID:27566131. |
genome sequencing reveals a splice donor site mutation in the snx14 gene associated with a novel cerebellar cortical degeneration in the hungarian vizsla dog breed. |
2017-09-13 |
2023-08-13 |
dog |
| Naiara Akizu, Vincent Cantagrel, Maha S Zaki, Lihadh Al-Gazali, Xin Wang, Rasim Ozgur Rosti, Esra Dikoglu, Antoinette Bernabe Gelot, Basak Rosti, Keith K Vaux, Eric M Scott, Jennifer L Silhavy, Jana Schroth, Brett Copeland, Ashleigh E Schaffer, Philip L S M Gordts, Jeffrey D Esko, Matthew D Buschman, Seth J Field, Gennaro Napolitano, Ghada M Abdel-Salam, R Koksal Ozgul, Mahmut Samil Sagıroglu, Matloob Azam, Samira Ismail, Mona Aglan, Laila Selim, Iman G Mahmoud, Sawsan Abdel-Hadi, Amera El Badawy, Abdelrahim A Sadek, Faezeh Mojahedi, Hulya Kayserili, Amira Masri, Laila Bastaki, Samia Temtamy, Ulrich Müller, Isabelle Desguerre, Jean-Laurent Casanova, Ali Dursun, Murat Gunel, Stacey B Gabriel, Pascale de Lonlay, Joseph G Gleeso. Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. Nature genetics. vol 47. issue 5. 2015-07-06. PMID:25848753. |
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. |
2015-07-06 |
2023-08-13 |
zebrafish |
| Naiara Akizu, Vincent Cantagrel, Maha S Zaki, Lihadh Al-Gazali, Xin Wang, Rasim Ozgur Rosti, Esra Dikoglu, Antoinette Bernabe Gelot, Basak Rosti, Keith K Vaux, Eric M Scott, Jennifer L Silhavy, Jana Schroth, Brett Copeland, Ashleigh E Schaffer, Philip L S M Gordts, Jeffrey D Esko, Matthew D Buschman, Seth J Field, Gennaro Napolitano, Ghada M Abdel-Salam, R Koksal Ozgul, Mahmut Samil Sagıroglu, Matloob Azam, Samira Ismail, Mona Aglan, Laila Selim, Iman G Mahmoud, Sawsan Abdel-Hadi, Amera El Badawy, Abdelrahim A Sadek, Faezeh Mojahedi, Hulya Kayserili, Amira Masri, Laila Bastaki, Samia Temtamy, Ulrich Müller, Isabelle Desguerre, Jean-Laurent Casanova, Ali Dursun, Murat Gunel, Stacey B Gabriel, Pascale de Lonlay, Joseph G Gleeso. Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. Nature genetics. vol 47. issue 5. 2015-07-06. PMID:25848753. |
biallelic mutations in snx14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. |
2015-07-06 |
2023-08-13 |
zebrafish |
| Naiara Akizu, Vincent Cantagrel, Maha S Zaki, Lihadh Al-Gazali, Xin Wang, Rasim Ozgur Rosti, Esra Dikoglu, Antoinette Bernabe Gelot, Basak Rosti, Keith K Vaux, Eric M Scott, Jennifer L Silhavy, Jana Schroth, Brett Copeland, Ashleigh E Schaffer, Philip L S M Gordts, Jeffrey D Esko, Matthew D Buschman, Seth J Field, Gennaro Napolitano, Ghada M Abdel-Salam, R Koksal Ozgul, Mahmut Samil Sagıroglu, Matloob Azam, Samira Ismail, Mona Aglan, Laila Selim, Iman G Mahmoud, Sawsan Abdel-Hadi, Amera El Badawy, Abdelrahim A Sadek, Faezeh Mojahedi, Hulya Kayserili, Amira Masri, Laila Bastaki, Samia Temtamy, Ulrich Müller, Isabelle Desguerre, Jean-Laurent Casanova, Ali Dursun, Murat Gunel, Stacey B Gabriel, Pascale de Lonlay, Joseph G Gleeso. Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. Nature genetics. vol 47. issue 5. 2015-07-06. PMID:25848753. |
zebrafish morphants for snx14 showed dramatic loss of cerebellar parenchyma, accumulation of autophagosomes and activation of apoptosis. |
2015-07-06 |
2023-08-13 |
zebrafish |
| Anna C Thomas, Hywel Williams, Núria Setó-Salvia, Chiara Bacchelli, Dagan Jenkins, Mary O'Sullivan, Konstantinos Mengrelis, Miho Ishida, Louise Ocaka, Estelle Chanudet, Chela James, Francesco Lescai, Glenn Anderson, Deborah Morrogh, Mina Ryten, Andrew J Duncan, Yun Jin Pai, Jorge M Saraiva, Fabiana Ramos, Bernadette Farren, Dawn Saunders, Bertrand Vernay, Paul Gissen, Anna Straatmaan-Iwanowska, Frank Baas, Nicholas W Wood, Joshua Hersheson, Henry Houlden, Jane Hurst, Richard Scott, Maria Bitner-Glindzicz, Gudrun E Moore, Sérgio B Sousa, Philip Stanie. Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome. American journal of human genetics. vol 95. issue 5. 2015-01-26. PMID:25439728. |
our findings indicate an essential role for snx14 in neural development and function, particularly in development and maturation of the cerebellum. |
2015-01-26 |
2023-08-13 |
Not clear |
| Anna C Thomas, Hywel Williams, Núria Setó-Salvia, Chiara Bacchelli, Dagan Jenkins, Mary O'Sullivan, Konstantinos Mengrelis, Miho Ishida, Louise Ocaka, Estelle Chanudet, Chela James, Francesco Lescai, Glenn Anderson, Deborah Morrogh, Mina Ryten, Andrew J Duncan, Yun Jin Pai, Jorge M Saraiva, Fabiana Ramos, Bernadette Farren, Dawn Saunders, Bertrand Vernay, Paul Gissen, Anna Straatmaan-Iwanowska, Frank Baas, Nicholas W Wood, Joshua Hersheson, Henry Houlden, Jane Hurst, Richard Scott, Maria Bitner-Glindzicz, Gudrun E Moore, Sérgio B Sousa, Philip Stanie. Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome. American journal of human genetics. vol 95. issue 5. 2015-01-26. PMID:25439728. |
here we report the identification of causal mutations in sorting nexin 14 (snx14) found in seven affected individuals from three unrelated consanguineous families who presented with recessively inherited moderate-severe intellectual disability, cerebellar ataxia, early-onset cerebellar atrophy, sensorineural hearing loss, and the distinctive association of progressively coarsening facial features, relative macrocephaly, and the absence of seizures. |
2015-01-26 |
2023-08-13 |
Not clear |