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A human three-dimensional neural-perivascular 'assembloid' promotes astrocytic development and enables modeling of SARS-CoV-2 neuropathology.

Lu Wang, David Sievert, Alex E Clark, Sangmoon Lee, Hannah Federman, Benjamin D Gastfriend, Eric V Shusta, Sean P Palecek, Aaron F Carlin, Joseph G Gleeson,

Clinical evidence suggests the central nervous system is frequently impacted by SARS-CoV-2 infection, either directly or indirectly, although the mechanisms are unclear. Pericytes are perivascular cells within the brain that are proposed as SARS-CoV-2 infection points. Here we show that pericyte-like cells (PLCs), when integrated into a cortical organoid, are ... Read more >>

Nat Med (Nature medicine)
[2021, :]

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Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish.

Sheng-Jia Lin, Barbara Vona, Patricia G Barbalho, Rauan Kaiyrzhanov, Reza Maroofian, Cassidy Petree, Mariasavina Severino, Valentina Stanley, Pratishtha Varshney, Paulina Bahena, Fatema Alzahrani, Amal Alhashem, Alistair T Pagnamenta, Gudrun Aubertin, Juvianee I Estrada-Veras, Héctor Adrián Díaz Hernández, Neda Mazaheri, Andrea Oza, Jenny Thies, Deborah L Renaud, Sanmati Dugad, Jennifer McEvoy, Tipu Sultan, Lynn S Pais, Brahim Tabarki, Daniel Villalobos-Ramirez, Aboulfazl Rad, , Hamid Galehdari, Farah Ashrafzadeh, Afsaneh Sahebzamani, Kolsoum Saeidi, Erin Torti, Houda Z Elloumi, Sara Mora, Timothy B Palculict, Hui Yang, Jonathan D Wren, Ben Fowler, Manali Joshi, Martine Behra, Shawn M Burgess, Swapan K Nath, Michael G Hanna, Margaret Kenna, J Lawrence Merritt, Henry Houlden, Ehsan Ghayoor Karimiani, Maha S Zaki, Thomas Haaf, Fowzan S Alkuraya, Joseph G Gleeson, Gaurav K Varshney,

<h4>Purpose</h4>Pathogenic variants in Lysyl-tRNA synthetase 1 (KARS1) have increasingly been recognized as a cause of early-onset complex neurological phenotypes. To advance the timely diagnosis of KARS1-related disorders, we sought to delineate its phenotype and generate a disease model to understand its function in vivo.<h4>Methods</h4>Through international collaboration, we identified 22 affected ... Read more >>

Genet Med (Genetics in medicine : official journal of the American College of Medical Genetics)
[2021, :]

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Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.

Hui Hui Wong, Sze Hwee Seet, Michael Maier, Ayse Gurel, Ricardo Moreno Traspas, Cheryl Lee, Shan Zhang, Beril Talim, Abigail Y T Loh, Crystal Y Chia, Tze Shin Teoh, Danielle Sng, Jarred Rensvold, Sule Unal, Evgenia Shishkova, Ece Cepni, Fatima M Nathan, Fernanda L Sirota, Chao Liang, Nese Yarali, Pelin O Simsek-Kiper, Tadahiro Mitani, Serdar Ceylaner, Ozlem Arman-Bilir, Hamdi Mbarek, Fatma Gumruk, Stephanie Efthymiou, Deniz Uğurlu Çïmen, Danai Georgiadou, Kortessa Sotiropoulou, Henry Houlden, Franziska Paul, Davut Pehlivan, Candice Lainé, Guoliang Chai, Nur Ain Ali, Siew Chin Choo, Soh Sok Keng, Bertrand Boisson, Elanur Yılmaz, Shifeng Xue, Joshua J Coon, Thanh Thao Nguyen Ly, Naser Gilani, Dana Hasbini, Hulya Kayserili, Maha S Zaki, Robert J Isfort, Natalia Ordonez, Kornelia Tripolszki, Peter Bauer, Nima Rezaei, Simin Seyedpour, Ghamar Taj Khotaei, Charles C Bascom, Reza Maroofian, Myriam Chaabouni, Afaf Alsubhi, Wafaa Eyaid, Sedat Işıkay, Joseph G Gleeson, James R Lupski, Jean-Laurent Casanova, David J Pagliarini, Nurten A Akarsu, Sebastian Maurer-Stroh, Arda Cetinkaya, Aida Bertoli-Avella, Ajay S Mathuru, Lena Ho, Frederic A Bard, Bruno Reversade,

Am J Hum Genet (American journal of human genetics)
[2021, 108(7):1356]

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Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features.

Maha S Zaki, Andrea Accogli, Ghayda Mirzaa, Fatima Rahman, Hiba Mohammed, Gloria Liliana Porras-Hurtado, Stephanie Efthymiou, Shazia Maqbool, Anju Shukla, John B Vincent, Abrar Hussain, Asif Mir, Christian Beetz, Anika Leubauer, Henry Houlden, Joseph G Gleeson, Reza Maroofian,

The PIDDosome is a multiprotein complex, composed by the p53-induced death domain protein 1 (PIDD1), the bipartite linker protein CRADD (also known as RAIDD) and the proform of caspase-2 that induces apoptosis in response to DNA damage. In the recent years, biallelic pathogenic variants in CRADD have been associated with ... Read more >>

Eur J Hum Genet (European journal of human genetics : EJHG)
[2021, :]

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Sperm mosaicism: implications for genomic diversity and disease.

Martin W Breuss, Xiaoxu Yang, Joseph G Gleeson,

While sperm mosaicism has few consequences for men, the offspring and future generations are unwitting recipients of gonadal cell mutations, often yielding severe disease. Recent studies, fueled by emergent technologies, show that sperm mosaicism is a common source of de novo mutations (DNMs) that underlie severe pediatric disease as well ... Read more >>

Trends Genet (Trends in genetics : TIG)
[2021, :]

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Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.

Hui Hui Wong, Sze Hwee Seet, Michael Maier, Ayse Gurel, Ricardo Moreno Traspas, Cheryl Lee, Shan Zhang, Beril Talim, Abigail Y T Loh, Crystal Y Chia, Tze Shin Teoh, Danielle Sng, Jarred Rensvold, Sule Unal, Evgenia Shishkova, Ece Cepni, Fatima M Nathan, Fernanda L Sirota, Chao Liang, Nese Yarali, Pelin O Simsek-Kiper, Tadahiro Mitani, Serdar Ceylaner, Ozlem Arman-Bilir, Hamdi Mbarek, Fatma Gumruk, Stephanie Efthymiou, Deniz Uğurlu Çi Men, Danai Georgiadou, Kortessa Sotiropoulou, Henry Houlden, Franziska Paul, Davut Pehlivan, Candice Lainé, Guoliang Chai, Nur Ain Ali, Siew Chin Choo, Soh Sok Keng, Bertrand Boisson, Elanur Yılmaz, Shifeng Xue, Joshua J Coon, Thanh Thao Nguyen Ly, Naser Gilani, Dana Hasbini, Hulya Kayserili, Maha S Zaki, Robert J Isfort, Natalia Ordonez, Kornelia Tripolszki, Peter Bauer, Nima Rezaei, Simin Seyedpour, Ghamar Taj Khotaei, Charles C Bascom, Reza Maroofian, Myriam Chaabouni, Afaf Alsubhi, Wafaa Eyaid, Sedat Işıkay, Joseph G Gleeson, James R Lupski, Jean-Laurent Casanova, David J Pagliarini, Nurten A Akarsu, Sebastian Maurer-Stroh, Arda Cetinkaya, Aida Bertoli-Avella, Ajay S Mathuru, Lena Ho, Frederic A Bard, Bruno Reversade,

Human C2orf69 is an evolutionarily conserved gene whose function is unknown. Here, we report eight unrelated families from which 20 children presented with a fatal syndrome consisting of severe autoinflammation and progredient leukoencephalopathy with recurrent seizures; 12 of these subjects, whose DNA was available, segregated homozygous loss-of-function C2orf69 variants. C2ORF69 ... Read more >>

Am J Hum Genet (American journal of human genetics)
[2021, 108(7):1301-1317]

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The Neurobiology of Modern Viral Scourges: ZIKV and COVID-19.

Swapnil Mittal, Hannah G Federman, David Sievert, Joseph G Gleeson,

The interactions of viruses with the nervous system were thought to be well understood until the recent outbreaks of Zika and SARS-CoV-2. In this review, we consider these emerging pathogens, the range and mechanisms of the neurological disease in humans, and how the biomedical research enterprise has pivoted to answer ... Read more >>

Neuroscientist (The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry)
[2021, :10738584211009149]

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Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia.

Shereen G Ghosh, Martin W Breuss, Zinayida Schlachetzki, Guoliang Chai, Danica Ross, Valentina Stanley, F Mujgan Sonmez, Haluk Topaloglu, Maha S Zaki, Heba Hosny, Shaimaa Gad, Joseph G Gleeson,

HEAT repeats are 37-47 amino acid flexible tandem repeat structural motifs occurring in a wide variety of eukaryotic proteins with diverse functions. Due to their ability to undergo elastic conformational changes, they often serve as scaffolds at sites of protein interactions. Here, we describe four affected children from two families ... Read more >>

Eur J Hum Genet (European journal of human genetics : EJHG)
[2021, 29(6):957-964]

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Author Correction: The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing.

Rachel E Rodin, Yanmei Dou, Minseok Kwon, Maxwell A Sherman, Alissa M D'Gama, Ryan N Doan, Lariza M Rento, Kelly M Girskis, Craig L Bohrson, Sonia N Kim, Ajay Nadig, Lovelace J Luquette, Doga C Gulhan, , Peter J Park, Christopher A Walsh,

Nat Neurosci (Nature neuroscience)
[2021, 24(4):611]

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Comprehensive identification of somatic nucleotide variants in human brain tissue.

Yifan Wang, Taejeong Bae, Jeremy Thorpe, Maxwell A Sherman, Attila G Jones, Sean Cho, Kenneth Daily, Yanmei Dou, Javier Ganz, Alon Galor, Irene Lobon, Reenal Pattni, Chaggai Rosenbluh, Simone Tomasi, Livia Tomasini, Xiaoxu Yang, Bo Zhou, Schahram Akbarian, Laurel L Ball, Sara Bizzotto, Sarah B Emery, Ryan Doan, Liana Fasching, Yeongjun Jang, David Juan, Esther Lizano, Lovelace J Luquette, John B Moldovan, Rujuta Narurkar, Matthew T Oetjens, Rachel E Rodin, Shobana Sekar, Joo Heon Shin, Eduardo Soriano, Richard E Straub, Weichen Zhou, Andrew Chess, Joseph G Gleeson, Tomas Marquès-Bonet, Peter J Park, Mette A Peters, Jonathan Pevsner, Christopher A Walsh, Daniel R Weinberger, , Flora M Vaccarino, John V Moran, Alexander E Urban, Jeffrey M Kidd, Ryan E Mills, Alexej Abyzov,

<h4>Background</h4>Post-zygotic mutations incurred during DNA replication, DNA repair, and other cellular processes lead to somatic mosaicism. Somatic mosaicism is an established cause of various diseases, including cancers. However, detecting mosaic variants in DNA from non-cancerous somatic tissues poses significant challenges, particularly if the variants only are present in a small ... Read more >>

Genome Biol (Genome biology)
[2021, 22(1):92]

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Author Correction: Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly.

Lu Wang, Zhen Li, David Sievert, Desirée E C Smith, Marisa I Mendes, Dillon Y Chen, Valentina Stanley, Shereen Ghosh, Yulu Wang, Majdi Kara, Ayca Dilruba Aslanger, Rasim O Rosti, Henry Houlden, Gajja S Salomons, Joseph G Gleeson,

Nat Commun (Nature communications)
[2021, 12(1):1192]

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The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing.

Rachel E Rodin, Yanmei Dou, Minseok Kwon, Maxwell A Sherman, Alissa M D'Gama, Ryan N Doan, Lariza M Rento, Kelly M Girskis, Craig L Bohrson, Sonia N Kim, Ajay Nadig, Lovelace J Luquette, Doga C Gulhan, , Peter J Park, Christopher A Walsh,

We characterize the landscape of somatic mutations-mutations occurring after fertilization-in the human brain using ultra-deep (~250×) whole-genome sequencing of prefrontal cortex from 59 donors with autism spectrum disorder (ASD) and 15 control donors. We observe a mean of 26 somatic single-nucleotide variants per brain present in ≥4% of cells, with ... Read more >>

Nat Neurosci (Nature neuroscience)
[2021, 24(2):176-185]

Cited: 2 times

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Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy.

Stephanie Efthymiou, Marina Dutra-Clarke, Reza Maroofian, Rauan Kaiyrzhanov, Marcello Scala, Javeria Reza Alvi, Tipu Sultan, Marilena Christoforou, Thi Tuyet Mai Nguyen, Kshitij Mankad, Barbara Vona, Aboulfazl Rad, Pasquale Striano, Vincenzo Salpietro, Maria J Guillen Sacoto, Maha S Zaki, Joseph G Gleeson, Philippe M Campeau, Bianca E Russell, Henry Houlden,

The phosphatidylinositol glycan anchor biosynthesis class S protein (PIGS) gene has recently been implicated in a novel congenital disorder of glycosylation resulting in autosomal recessive inherited glycosylphosphatidylinositol-anchored protein (GPI-AP) deficiency. Previous studies described seven patients with biallelic variants in the PIGS gene, of whom two presented with fetal akinesia and ... Read more >>

Epilepsia (Epilepsia)
[2021, 62(2):e35-e41]

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Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance.

Franck Rapaport, Bertrand Boisson, Anne Gregor, Vivien Béziat, Stéphanie Boisson-Dupuis, Jacinta Bustamante, Emmanuelle Jouanguy, Anne Puel, Jérémie Rosain, Qian Zhang, Shen-Ying Zhang, Joseph G Gleeson, Lluis Quintana-Murci, Jean-Laurent Casanova, Laurent Abel, Etienne Patin,

Genetic variants underlying life-threatening diseases, being unlikely to be transmitted to the next generation, are gradually and selectively eliminated from the population through negative selection. We study the determinants of this evolutionary process in human genes underlying monogenic diseases by comparing various negative selection scores and an integrative approach, CoNeS, ... Read more >>

Proc Natl Acad Sci U S A (Proceedings of the National Academy of Sciences of the United States of America)
[2021, 118(3):]

Cited: 2 times

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UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism.

Chunmei Li, Eliane Beauregard-Lacroix, Christine Kondratev, Justine Rousseau, Ah Jung Heo, Katherine Neas, Brett H Graham, Jill A Rosenfeld, Carlos A Bacino, Matias Wagner, Maren Wenzel, Fuad Al Mutairi, Hamad Al Deiab, Joseph G Gleeson, Valentina Stanley, Maha S Zaki, Yong Tae Kwon, Michel R Leroux, Philippe M Campeau,

The ubiquitin-proteasome system facilitates the degradation of unstable or damaged proteins. UBR1-7, which are members of hundreds of E3 ubiquitin ligases, recognize and regulate the half-life of specific proteins on the basis of their N-terminal sequences ("N-end rule"). In seven individuals with intellectual disability, epilepsy, ptosis, hypothyroidism, and genital anomalies, ... Read more >>

Am J Hum Genet (American journal of human genetics)
[2021, 108(1):134-147]

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MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia.

Ekin Ucuncu, Karthyayani Rajamani, Miranda S C Wilson, Daniel Medina-Cano, Nami Altin, Pierre David, Giulia Barcia, Nathalie Lefort, Céline Banal, Marie-Thérèse Vasilache-Dangles, Gaële Pitelet, Elsa Lorino, Nathalie Rabasse, Eric Bieth, Maha S Zaki, Meral Topcu, Fatma Mujgan Sonmez, Damir Musaev, Valentina Stanley, Christine Bole-Feysot, Patrick Nitschké, Arnold Munnich, Nadia Bahi-Buisson, Catherine Fossoud, Fabienne Giuliano, Laurence Colleaux, Lydie Burglen, Joseph G Gleeson, Nathalie Boddaert, Adolfo Saiardi, Vincent Cantagrel,

Inositol polyphosphates are vital metabolic and secondary messengers, involved in diverse cellular functions. Therefore, tight regulation of inositol polyphosphate metabolism is essential for proper cell physiology. Here, we describe an early-onset neurodegenerative syndrome caused by loss-of-function mutations in the multiple inositol-polyphosphate phosphatase 1 gene (MINPP1). Patients are found to have ... Read more >>

Nat Commun (Nature communications)
[2020, 11(1):6087]

Cited: 1 time

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Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly.

Guoliang Chai, Alice Webb, Chen Li, Danny Antaki, Sangmoon Lee, Martin W Breuss, Nhi Lang, Valentina Stanley, Paula Anzenberg, Xiaoxu Yang, Trevor Marshall, Patrick Gaffney, Klaas J Wierenga, Brian Hon-Yin Chung, Mandy Ho-Yin Tsang, Lynn S Pais, Alysia Kern Lovgren, Grace E VanNoy, Heidi L Rehm, Ghayda Mirzaa, Eyby Leon, Jullianne Diaz, Alexander Neumann, Arnout P Kalverda, Iain W Manfield, David A Parry, Clare V Logan, Colin A Johnson, David T Bonthron, Elizabeth M A Valleley, Mahmoud Y Issa, Sherif F Abdel-Ghafar, Mohamed S Abdel-Hamid, Patricia Jennings, Maha S Zaki, Eamonn Sheridan, Joseph G Gleeson,

Autosomal-recessive cerebellar hypoplasia and ataxia constitute a group of heterogeneous brain disorders caused by disruption of several fundamental cellular processes. Here, we identified 10 families showing a neurodegenerative condition involving pontocerebellar hypoplasia with microcephaly (PCHM). Patients harbored biallelic mutations in genes encoding the spliceosome components Peptidyl-Prolyl Isomerase Like-1 (PPIL1) or ... Read more >>

Neuron (Neuron)
[2021, 109(2):241-256.e9]

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Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition.

Shereen G Ghosh, Sangmoon Lee, Rudy Fabunan, Guoliang Chai, Maha S Zaki, Ghada Abdel-Salam, Tipu Sultan, Tawfeg Ben-Omran, Javeria Raza Alvi, Jennifer McEvoy-Venneri, Valentina Stanley, Aakash Patel, Danica Ross, Jeffrey Ding, Mohit Jain, Daqiang Pan, Philipp Lübbert, Bernd Kammerer, Nils Wiedemann, Nanda M Verhoeven-Duif, Judith J Jans, David Murphy, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Shima Imannezhad, Ehsan Ghayoor Karimiani, Khalid Ibrahim, Elizabeth R Waters, Reza Maroofian, Joseph G Gleeson,

<h4>Purpose</h4>Dioxygenases are oxidoreductase enzymes with roles in metabolic pathways necessary for aerobic life. 4-hydroxyphenylpyruvate dioxygenase-like protein (HPDL), encoded by HPDL, is an orphan paralogue of 4-hydroxyphenylpyruvate dioxygenase (HPD), an iron-dependent dioxygenase involved in tyrosine catabolism. The function and association of HPDL with human diseases remain unknown.<h4>Methods</h4>We applied exome sequencing in ... Read more >>

Genet Med (Genetics in medicine : official journal of the American College of Medical Genetics)
[2021, 23(3):524-533]

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Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome.

Pasquelena De Nittis, Stephanie Efthymiou, Alexandre Sarre, Nicolas Guex, Jacqueline Chrast, Audrey Putoux, Tipu Sultan, Javeria Raza Alvi, Zia Ur Rahman, Faisal Zafar, Nuzhat Rana, Fatima Rahman, Najwa Anwar, Shazia Maqbool, Maha S Zaki, Joseph G Gleeson, David Murphy, Hamid Galehdari, Gholamreza Shariati, Neda Mazaheri, Alireza Sedaghat, , Gaetan Lesca, Nicolas Chatron, Vincenzo Salpietro, Marilena Christoforou, Henry Houlden, William F Simonds, Thierry Pedrazzini, Reza Maroofian, Alexandre Reymond,

<h4>Background</h4>Pathogenic variants of <i>GNB5</i> encoding the β<sub>5</sub> subunit of the guanine nucleotide-binding protein cause IDDCA syndrome, an autosomal recessive neurodevelopmental disorder associated with cognitive disability and cardiac arrhythmia, particularly severe bradycardia.<h4>Methods</h4>We used echocardiography and telemetric ECG recordings to investigate consequences of <i>Gnb5</i> loss in mouse.<h4>Results</h4>We delineated a key role of ... Read more >>

J Med Genet (Journal of medical genetics)
[2020, :]

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A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder.

Maha S Zaki, Mahmoud Y Issa, Manal M Thomas, Hasnaa M Elbendary, Karima Rafat, Nihal M Al Menabawy, Laila A Selim, Samira Ismail, Ghada M Abdel-Salam, Joseph G Gleeson,

At least 14 distinctive PEX genes function in the biogenesis of peroxisomes. Biallelic alterations in the peroxisomal biogenesis factor 12 (PEX12) gene lead to Zellweger syndrome spectrum (ZSS) with variable clinical expressivity ranging from early lethality to mildly affected with long-term survival. Herein, we define 20 patients derived from 14 ... Read more >>

Neurol Sci (Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology)
[2021, 42(7):2737-2745]

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Editorial overview: Neurodevelopment Diseases and Neurogenetics pivot towards mechanisms and therapies.

Daniel H Geschwind, Joseph G Gleeson,

Curr Opin Genet Dev (Current opinion in genetics & development)
[2020, 65:iii-vii]

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Insight into developmental mechanisms of global and focal migration disorders of cortical development.

Michael A Castello, Joseph G Gleeson,

Cortical development involves neurogenesis followed by migration, maturation, and myelination of immature neurons. Disruptions in these processes can cause malformations of cortical development (MCD). Radial glia (RG) are the stem cells of the brain, both generating neurons and providing the scaffold upon which immature neurons radially migrate. Germline mutations in ... Read more >>

Curr Opin Neurobiol (Current opinion in neurobiology)
[2021, 66:77-84]

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Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.

David A Dyment, Anne O'Donnell-Luria, Pankaj B Agrawal, Zeynep Coban Akdemir, Kyrieckos A Aleck, Danny Antaki, Hind Al Sharhan, Ping-Yee B Au, Hatip Aydin, Alan H Beggs, Kaya Bilguvar, Eric Boerwinkle, Harrison Brand, Catherine A Brownstein, Steve Buyske, Bernard Chodirker, Jungmin Choi, Albert E Chudley, Carol L Clericuzio, Gerald F Cox, Cynthia Curry, Elke de Boer, Bert B A de Vries, Kathryn Dunn, Cullen M Dutmer, Eleina M England, Jill A Fahrner, Bilgen B Geckinli, Casie A Genetti, Alper Gezdirici, William T Gibson, Joseph G Gleeson, Cheryl R Greenberg, April Hall, Ada Hamosh, Taila Hartley, Shalini N Jhangiani, Ender Karaca, Kristin Kernohan, Julie L Lauzon, M E Suzanne Lewis, R Brian Lowry, Francesc López-Giráldez, Tara C Matise, Jennifer McEvoy-Venneri, Brenda McInnes, Aziz Mhanni, Sixto Garcia Minaur, Jukka Moilanen, An Nguyen, Malgorzata J M Nowaczyk, Jennifer E Posey, Katrin Õunap, Davut Pehlivan, Sander Pajusalu, Lynette S Penney, Timothy Poterba, Paolo Prontera, Maria Juliana Rodovalho Doriqui, Sarah L Sawyer, Nara Sobreira, Valentina Stanley, Deniz Torun, David Wargowski, P Dane Witmer, Isaac Wong, Jinchuan Xing, Maha S Zaki, Yeting Zhang, , , Kym M Boycott, Michael J Bamshad, Deborah A Nickerson, Elizabeth E Blue, A Micheil Innes,

Dubowitz syndrome (DubS) is considered a recognizable syndrome characterized by a distinctive facial appearance and deficits in growth and development. There have been over 200 individuals reported with Dubowitz or a "Dubowitz-like" condition, although no single gene has been implicated as responsible for its cause. We have performed exome (ES) ... Read more >>

Am J Med Genet A (American journal of medical genetics. Part A)
[2021, 185(1):119-133]

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Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly.

Lu Wang, Zhen Li, David Sievert, Desirée E C Smith, Marisa I Mendes, Dillon Y Chen, Valentina Stanley, Shereen Ghosh, Yulu Wang, Majdi Kara, Ayca Dilruba Aslanger, Rasim O Rosti, Henry Houlden, Gajja S Salomons, Joseph G Gleeson,

Asparaginyl-tRNA synthetase1 (NARS1) is a member of the ubiquitously expressed cytoplasmic Class IIa family of tRNA synthetases required for protein translation. Here, we identify biallelic missense and frameshift mutations in NARS1 in seven patients from three unrelated families with microcephaly and neurodevelopmental delay. Patient cells show reduced NARS1 protein, impaired ... Read more >>

Nat Commun (Nature communications)
[2020, 11(1):4038]

Cited: 7 times

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De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

Andreea Manole, Stephanie Efthymiou, Emer O'Connor, Marisa I Mendes, Matthew Jennings, Reza Maroofian, Indran Davagnanam, Kshitij Mankad, Maria Rodriguez Lopez, Vincenzo Salpietro, Ricardo Harripaul, Lauren Badalato, Jagdeep Walia, Christopher S Francklyn, Alkyoni Athanasiou-Fragkouli, Roisin Sullivan, Sonal Desai, Kristin Baranano, Faisal Zafar, Nuzhat Rana, Muhammed Ilyas, Alejandro Horga, Majdi Kara, Francesca Mattioli, Alice Goldenberg, Helen Griffin, Amelie Piton, Lindsay B Henderson, Benyekhlef Kara, Ayca Dilruba Aslanger, Joost Raaphorst, Rolph Pfundt, Ruben Portier, Marwan Shinawi, Amelia Kirby, Katherine M Christensen, Lu Wang, Rasim O Rosti, Sohail A Paracha, Muhammad T Sarwar, Dagan Jenkins, , Jawad Ahmed, Federico A Santoni, Emmanuelle Ranza, Justyna Iwaszkiewicz, Cheryl Cytrynbaum, Rosanna Weksberg, Ingrid M Wentzensen, Maria J Guillen Sacoto, Yue Si, Aida Telegrafi, Marisa V Andrews, Dustin Baldridge, Heinz Gabriel, Julia Mohr, Barbara Oehl-Jaschkowitz, Sylvain Debard, Bruno Senger, Frédéric Fischer, Conny van Ravenwaaij, Annemarie J M Fock, Servi J C Stevens, Jürg Bähler, Amina Nasar, John F Mantovani, Adnan Manzur, Anna Sarkozy, Desirée E C Smith, Gajja S Salomons, Zubair M Ahmed, Shaikh Riazuddin, Saima Riazuddin, Muhammad A Usmani, Annette Seibt, Muhammad Ansar, Stylianos E Antonarakis, John B Vincent, Muhammad Ayub, Mona Grimmel, Anne Marie Jelsig, Tina Duelund Hjortshøj, Helena Gásdal Karstensen, Marybeth Hummel, Tobias B Haack, Yalda Jamshidi, Felix Distelmaier, Rita Horvath, Joseph G Gleeson, Hubert Becker, Jean-Louis Mandel, David A Koolen, Henry Houlden,

Aminoacyl-tRNA synthetases (ARSs) are ubiquitous, ancient enzymes that charge amino acids to cognate tRNA molecules, the essential first step of protein translation. Here, we describe 32 individuals from 21 families, presenting with microcephaly, neurodevelopmental delay, seizures, peripheral neuropathy, and ataxia, with de novo heterozygous and bi-allelic mutations in asparaginyl-tRNA synthetase ... Read more >>

Am J Hum Genet (American journal of human genetics)
[2020, 107(2):311-324]

Cited: 3 times

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