Article
Neurosciences
Nao Nakagawa-Tamagawa, Emi Kirino, Kohtaroh Sugao, Hidetaka Nagata, Yoshiaki Tagawa
Summary: This study demonstrated that the Cav1.2 I1166T mutation could affect two critical steps during cerebrocortical development, migration and axonal projection, in the mouse brain. This is mediated through Ca2+-dependent pathway downstream of Cav1.2 and beta subunit-interaction.
FRONTIERS IN NEUROSCIENCE
(2021)
Article
Oncology
Kumar Nikhil, Hanan S. Haymour, Mohini Kamra, Kavita Shah
Summary: This study identified that LIMK2 degrades SPOP by direct phosphorylation and creates a feedback loop to promote oncogenicity in prostate cancer. Understanding the relationship between LIMK2 and SPOP provides a powerful opportunity to inhibit LIMK2 and retain WT-SPOP, effectively halting disease progression.
BRITISH JOURNAL OF CANCER
(2021)
Article
Clinical Neurology
Wentong Hong, Pifang Gong, Xinjie Pan, Yitong Liu, Guibo Qi, Congcong Qi, Song Qin
Summary: Kruppel-like Factor 7 (KLF7), a zinc finger transcription factor, plays a critical role in cellular differentiation, tumorigenesis, and regeneration. Mutations in Klf7 are associated with autism spectrum disorder characterized by neurodevelopmental delay and intellectual disability. Our study reveals that KLF7 regulates neurogenesis and neuronal migration during mouse cortical development. Depletion of KLF7 in neural progenitor cells leads to agenesis of the corpus callosum, defects in neurogenesis, and impaired neuronal migration in the neocortex. Transcriptomic profiling analysis identifies p21 and Rac3 as KLF7-regulated genes involved in neuronal differentiation and migration. These findings contribute to our understanding of the potential mechanisms underlying neurological defects associated with Klf7 mutations.
Article
Biochemistry & Molecular Biology
Elisa Kreibich, Rozemarijn Kleinendorst, Guido Barzaghi, Sarah Kaspar, Arnaud R. Krebs
Summary: Enhancers are cis-regulatory elements that control cell identity during development. This study reveals that DNA demethylation is necessary for the activation of a specific class of enhancers, where DNA methylation antagonizes the binding of transcription factors. This finding suggests that DNA methylation directly controls transcription factor occupancy at active enhancers, in addition to protecting the genome from spurious activation.
Article
Biochemistry & Molecular Biology
Lorela Ciraku, Zachary A. Bacigalupa, Jing Ju, Rebecca A. Moeller, Giang Le Minh, Rusia H. Lee, Michael D. Smith, Christina M. Ferrer, Sophie Trefely, Luke T. Izzo, Mary T. Doan, Wiktoria A. Gocal, Luca D'Agostino, Wenyin Shi, Joshua G. Jackson, Christos D. Katsetos, Kathryn E. Wellen, Nathaniel W. Snyder, Mauricio J. Reginato
Summary: This study identifies a novel mechanism in which OGT regulates acetate-dependent acetyl-CoA and lipid production by regulating phosphorylation of ACSS2 by CDK5. The OGT/CDK5/ACSS2 pathway may be a potential target for treating altered metabolic dependencies in brain tumors.
Article
Neurosciences
Yuewen Chen, Zhenyan Xu, Jing Chen, Yue Qiu, Lin Yuan, Peng Liu, Jing Duan, Li Chen, Yu Chen
Summary: In the developing cortex, the distribution and assembly of the F-actin cytoskeleton and the function of coronin 2B play a crucial role in neuronal migration and proper cortical development. Coronin 2B is responsible for the transition from a multipolar to bipolar morphology during neuronal migration. Loss of coronin 2B leads to heterotopic accumulation of migrating neurons, reduced dendritic complexity, and aberrant neuronal activity.
JOURNAL OF NEUROSCIENCE
(2023)
Article
Neurosciences
Iva Salamon, Geeta Palsule, Xiaobing Luo, Alfonso Roque, Shawn Tucai, Ishan Khosla, Nicole Volk, Wendy Liu, Huijuan Cui, Valentina Dal Pozzo, Petronio Zalamea, Xinfu Jiao, Gabriella D'Arcangelo, Ronald P. Hart, Mladen-Roko Rasin, Megerditch Kiledjian
Summary: Mutations in the gene encoding the scavenger mRNA-decapping enzyme DcpS have been linked to developmental delay and intellectual disability, affecting neuronal differentiation and neurite outgrowth in both human and mouse models. These findings suggest that DcpS plays a crucial role in neural development and further support the association between mRNA metabolism, neocortical pathologies, and intellectual disability.
Article
Multidisciplinary Sciences
Catarina Dias, Erisa Nita, Jakub Faktor, Ailish C. Tynan, Lenka Hernychova, Borivoj Vojtesek, Jesper Nylandsted, Ted R. Hupp, Tilo Kunath, Kathryn L. Ball
Summary: CHIP, an E3-ubiquitin ligase, plays a crucial role in healthy aging and neuroprotection. A study on patient-derived human neuronal model revealed that loss of CHIP function primarily affects a focused group of proteins related to actin cytoskeleton signaling and membrane integrity networks. Knockout cells without CHIP showed increased sensitivity to induced membrane damage, indicating that modulation of substrates involved in maintaining cellular health contributes to the neuroprotective functions of CHIP.
Article
Biochemistry & Molecular Biology
Fabiola Pacheco Valencia, Amanda F. Marino, Christos Noutsos, Kinning Poon
Summary: Prenatal exposure to a high-fat diet increases hypothalamic neurogenesis events in embryos and programs the offspring to be prone to obesity. This study investigates the effects of oleic and palmitic acids, abundant in a high-fat diet, on the hypothalamic neuronal transcriptome and how these changes affect neurogenesis events. The results show that oleic acid stimulates proliferation and palmitic acid stimulates apoptosis in hypothalamic neurons, with both fatty acids impacting migration. Potential signaling pathways affected by these fatty acids are also uncovered.
JOURNAL OF NUTRITIONAL BIOCHEMISTRY
(2022)
Article
Developmental Biology
Shanshan Wu, Tingting Wei, Wenjuan Fan, Yanli Wang, Chaojie Li, Jinbo Deng
Summary: The study investigated the relationships between neocortical lamination and cell cycle by examining various cells in different cell phases in mouse cortices. The results showed that neural stem cells and migrating postmitotic neurons are in different cell cycle phases, while pyramidal cells and CR cells have exited the cell cycle.
INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE
(2021)
Article
Neurosciences
Moushumi R. Dey, Kirthan Reddy, Hiroichi Yoshida, Naoko Nishiyama, Boris Zemelman, Hiroshi Nishiyama
Summary: The migration of neurons during brain development is a crucial process, and the presence of ectopic neurons in the molecular layer challenges the traditional view. This study reveals that the ectopic granule cells in the cerebellar cortex, known as mGCs, are as prevalent as other types of cells and exhibit similar functional properties to regular granule cells.
Article
Neurosciences
Alba Ortega-Gasco, Antoni Parcerisas, Keiko Hino, Vicente Herranz-Perez, Fausto Ulloa, Alba Elias-Tersa, Miquel Bosch, Jose Manuel Garcia-Verdugo, Sergi Simo, Lluis Pujadas, Eduardo Soriano
Summary: NCAM2 plays a significant role in the regulation of RGPs during adult neurogenesis and corticogenesis.
Article
Biochemistry & Molecular Biology
Brianna K. Unda, Leon Chalil, Sehyoun Yoon, Savannah Kilpatrick, Courtney Irwin, Sansi Xing, Nadeem Murtaza, Anran Cheng, Chad Brown, Alexandria Afonso, Elizabeth McCready, Gabriel M. Ronen, Jennifer Howe, Aurelie Caye-Eude, Alain Verloes, Brad W. Doble, Laurence Faivre, Antonio Vitobello, Stephen W. Scherer, Yu Lu, Peter Penzes, Karun K. Singh
Summary: Copy number variations (CNVs) are associated with psychiatric and neurodevelopmental disorders (NDDs), and the underlying disease mechanisms for most CNVs are unknown. In this study, a 15q13.3 microdeletion mouse model and patient iPSC-derived neurons were used to investigate the developmental defects caused by the CNV. By targeting the 15q13.3 CNV genetic driver OTUD7A, the study revealed a critical OTUD7A-Ankyrin pathway in neuronal development and dysfunction in the 15q13.3 microdeletion syndrome.
MOLECULAR PSYCHIATRY
(2023)
Correction
Multidisciplinary Sciences
Catarina Dias, Erisa Nita, Jakub Faktor, Ailish C. Tynan, Lenka Hernychova, Borivoj Vojtesek, Jesper Nylandsted, Ted R. Hupp, Tilo Kunath, Kathryn L. Ball
Summary: Stylistic changes were made to the manuscript to improve clarity, including the addition of a vertical black line in Figure 1K to indicate the separation between samples. The legend for Figure 2I was also modified to show that the ANXA2 data was obtained by re-probing the membrane shown in Figure 1K, which included the CHIP heterozygous cell sample. As a result, some of the b-actin and CHIP controls were common to both Figure 1K and 2I.
Article
Biochemistry & Molecular Biology
Esperanza Jimenez, Amparo Fornes, Raquel Felipe, Enrique Nunez, Carmen Aragon, Beatriz Lopez-Corcuera
Summary: The study shows that the regulation of GlyT2 function by M2 mAChRs involves the release of intracellular calcium, and the plasma membrane sodium calcium exchanger NCX may play a key role.
NEUROCHEMICAL RESEARCH
(2022)
Article
Dermatology
Frederick C. Morgan, Lamis Yehia, Christine McDonald, Julian A. Martinez-Agosto, Antonio Y. Hardan, Joan Tamburro, Mustafa Sahin, Cheryl Bayart, Charis Eng
Summary: This study characterized the dermatologic findings and genotype-dermatologic phenotype associations in PTEN hamartoma tumor syndrome (PHTS). The results showed that children were less likely to have oral papillomas, vascular malformations, benign follicular neoplasms, and acral keratoses compared to adults. There were no cases of skin cancer among children. Basal cell carcinoma, cutaneous squamous cell carcinoma, and melanoma developed in a small percentage of White adults. Missense mutations were associated with lower odds of developing certain cutaneous manifestations after adjusting for age.
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY
(2023)
Review
Genetics & Heredity
Sanna Gudmundsson, Colleen M. Carlston, Anne O'Donnell-Luria
Summary: Reference population databases such as gnomAD have improved our ability to interpret the human genome, but clonal hematopoiesis (CH) poses challenges in variant interpretation. Somatic variants associated with CH can affect variant frequencies and downstream filtering. Filtering variants or genes associated with CH may inadvertently exclude true germline variants and cause Mendelian conditions. Here, we provide insights and recommendations for interpreting population variant data in genes affected by CH, specifically focusing on 36 established CH genes associated with neurodevelopmental conditions.
Article
Biochemistry & Molecular Biology
Alicia B. Byrne, Peer Arts, Thuong T. Ha, Karin S. Kassahn, Lynn S. Pais, Anne O'Donnell-Luria, Milena Babic, Mahalia S. B. Frank, Jinghua Feng, Paul Wang, David M. Lawrence, Leila Eshraghi, Luis Arriola, John Toubia, Hung Nguyen, George McGillivray, Jason Pinner, Fiona McKenzie, Rebecca Morrow, Jill Lipsett, Nick Manton, T. Yee Khong, Lynette Moore, Jan E. Liebelt, Andreas W. Schreiber, Sarah L. King-Smith, Tristan S. E. Hardy, Matilda R. Jackson, Christopher P. Barnett, Hamish S. Scott, Francois Aguet, Harindra M. Arachchi, Christina A. Austin-Tse, Larry Babb, Samantha M. Baxter, Harrison Brand, Alicia B. Byrne, Jaime Chang, Katherine R. Chao, Ryan L. Collins, Beryl Cummings, Kayla Delano, Stephanie P. DiTroia, Eleina England, Emily Evangelista, Selin Everett, Laurent C. Francioli, Jack Fu, Vijay S. Ganesh, Kiran Garimella, Laura D. Gauthier, Julia K. Goodrich, Sanna Gudmundsson, Stacey J. Hall, Yongqing Huang, Steve Jahl, Kristen M. Laricchia, Kathryn E. Larkin, Monkol Lek, Gabrielle Lemire, Rachel B. Lipson, Alysia Kern Lovgren, Daniel G. MacArthur, Brian E. Mangilog, Stacy Mano, Jamie L. Marshall, Thomas E. Mullen, Kevin K. Nguyen, Emily O'Heir, Melanie C. O'Leary, Ikeoluwa A. Osei-Owusu, Lynn S. Pais, Jorge Perez de Acha Chavez, Emma Pierce-Hoffman, Heidi L. Rehm, Milan Serrano, Moriel Singer-Berk, Hana Snow, Matthew Solomonson, Rachel G. Son, Abigail Sveden, Michael Talkowski, Grace Tiao, Miriam S. Udler, Zaheer Valivullah, Elise Valkanas, Grace E. VanNoy, Qingbo S. Wang, Nicholas A. Watts, Ben Weisburd, Clara E. Williamson, Michael W. Wilson, Lauren Witzgall, Monica H. Wojcik, Isaac Wong, Jordan C. Wood, Shifa Zhang, Disna Abeysuriya, Lesley C. Ades, David J. Amor, Susan Arbuckle, Madhura Bakshi, Christopher P. Barnete, Bligh Berry, Tiffany Boughtwood, Adam Bournazos, Alessandra Bray, Fiona Chan, Yuen Chan, Clara Chung, Jonathan Clark, Jackie Collett, Alison Colley, Felicity Collins, Sandra Cooper, Mark A. Corbett, Jane E. Dahlstrom, Peter Dargaville, Janene Davies, Tenielle Davis, Jarrad Dearman, Jayanthi Dissanayake, Julia Dobbins, Helen Doyle, Andrew Dubowsky, Matt Edwards, Lisa J. Ewans, Mitali Fadia, Andrew Fennell, Ken Finlay, Andrew French, Kathryn Friend, Alison E. Gardner, Jozef Gecz, Nicole Graf, Eric A. Haan, Georgina Hollingsworth, Ari E. Horton, Denise Howting, Matthew F. Hunter, Gareth Jevon, Benjamin Kamien, Debra Kennedy, T. Yee Khong, Michael Krivanek, Thessa Kroes, Emma Krzesinski, Edward Kwan, Stephanie Lau, Shannon LeBlanc, Jan Liebelt, Suzanna Lindsey-Temple, Jill Lipsett, Christine K. C. Loo, Julia Low, Amali Mallawaarachchi, Nick Manton, Admire Matsika, Tessa Mattiske, Julie McGaughran, George McGillivray, Lesley McGregor, Fiona McKenzie, Namita Mittal, Ali Moghimi, Lynette Moore, Hatice Mutlu Albayrak, Jessica Ng, Jillian Nicholl, Nicholas Pachter, John Papadimitriou, Renae Parker, Sarah Parsons, Chirag Patel, Rhonda Pawlowski, Luis A. Perez-Jurado, Jason R. Pinner, Katerina Politis, Cathryn Poulton, Theresa Power, Michael Quinn, Sulekha Rajagopalan, Matthew Regan, Jonathan Rodgers, Steuart Rorke, Rani Sachdev, Suzanne Sallevelt, Sarah A. Sandaradura, Maryam Shamassi, Roshan Shamon, Isabella Sherburn, Ennie Slee, Annalisa Solinas, Ella Sugo, Elizabeth Thompson, Sagarika Tripathy, Anand Vasudevan, Melisa Vazquez, Kunal Verma, Mthulisi Viki, Mathew Wallis, Dani L. Webber, Martin Weber, Karen Whale, Meredith Wilson, Lisa Worgan, Sui Yu
Summary: We evaluated 'genomic autopsy' as an adjunct to standard autopsy for families who experienced fetal or newborn death. The study provided genetic diagnoses for 105 families, revealing severe atypical in utero presentations of known genetic disorders and identifying novel phenotypes and disease genes. Our findings emphasize the clinical importance of genomic investigations in pregnancy loss and perinatal death, highlighting the potential for accurate counseling in future pregnancies.
Editorial Material
Clinical Neurology
David G. Vossler
Editorial Material
Clinical Neurology
David G. Vossler
Summary: This study aimed to compare the efficacy of midazolam and propofol in treating refractory status epilepticus (RSE) and focused on management methods in resource-limited settings. The study found that patients treated with midazolam or propofol for RSE had similar baseline characteristics and outcomes. Prolonged EEG monitoring may help reduce the duration of anesthetic infusions, but this depends on the implementation of RSE management protocols.
Letter
Cardiac & Cardiovascular Systems
Jennifer L. Hall, Sally Honeycutt, Nicole Gonzalez, Anne O'Donnell-Luria, Casey Overby Taylor, Laura Stevens, Anthony A. Philippakis, Michael C. Schatz
CIRCULATION-GENOMIC AND PRECISION MEDICINE
(2023)
Review
Genetics & Heredity
Siddharth Srivastava, Mustafa Sahin, Joseph D. Buxbaum, Elizabeth Berry-Kravis, Latha Valluripalli Soorya, Audrey Thurm, Jonathan A. Bernstein, Afua Asante-Otoo, William E. E. Bennett Jr, Catalina Betancur, Tegwyn H. Brickhouse, Maria Rita Passos Bueno, Maya Chopra, Celanie K. Christensen, Jennifer L. Cully, Kira Dies, Kate Friedman, Brittany Gummere, J. Lloyd Holder Jr, Andres Jimenez-Gomez, Carolyn A. Kerins, Omar Khan, Teresa Kohlenberg, Ronald V. Lacro, Lori A. Levi, Tess Levy, Diane Linnehan, Loth Eva, Baharak Moshiree, Ann Neumeyer, Scott M. Paul, Katy Phelan, Antonio Persico, Robert Rapaport, Curtis Rogers, Jeffrey Saland, Swathi Sethuram, Janine Shapiro, Phillip I. Tarr, Kerry M. White, Jordan Wickstrom, Kent M. Williams, Dana Winrow, Brian Wishart, Alexander Kolevzon
Summary: Phelan-McDermid syndrome (PMS) is a genetic condition caused by SHANK3 haploinsufficiency and characterized by a wide range of neurodevelopmental and systemic manifestations. Updated clinical management guidelines have been established to reflect the latest knowledge in PMS and provide guidance for clinicians, researchers, and the general community. These guidelines were developed by a taskforce consisting of clinical experts in PMS and representatives from the parent community.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Genetics & Heredity
Thomas W. Frazier, Robyn M. Busch, Patricia Klaas, Katherine Lachlan, Shafali Jeste, Alexander Kolevzon, Eva Loth, Jacqueline Harris, Leslie Speer, Tom Pepper, Kristin Anthony, Graglia J. Michael, Christal G. Delagrammatikas, Sandra Bedrosian-Sermone, Constance Smith-Hicks, Katie Huba, Robert Longyear, LeeAnne Green-Snyder, Frederick Shic, Mustafa Sahin, Charis Eng, Antonio Y. Hardan, Mirko Uljarevic
Summary: This study developed and evaluated a set of online, webcam-collected, and artificial intelligence-derived patient performance measures for neurodevelopmental genetic syndromes (NDGS). Four stimulus paradigms capturing social and cognitive processes were developed and administered to 375 participants. The measures showed good completion rates and internal consistency reliability. Test-retest reproducibility was fair to good and gaze-based measures demonstrated convergent and discriminant validity. The study also identified distinct patterns of social and cognitive functioning among different NDGS groups.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
(2023)
Article
Clinical Neurology
David G. G. Vossler, William E. E. Rosenfeld, Sean Stern, Clarence T. T. Wade, Louis Ferrari, Wesley T. T. Kerr, Robert Wechsler
Summary: In this post hoc analysis, the sustainability of seizure reduction with cenobamate was evaluated in patients with uncontrolled focal seizures. The results demonstrated that cenobamate can lead to sustained seizure reduction, with some patients achieving complete seizure control.
Correction
Biochemistry & Molecular Biology
Alicia B. Byrne, Peer Arts, Thuong T. Ha, Karin S. Kassahn, Lynn S. Paris, Anne O'Donnell-Luria, Milena Babic, Mahalia S. B. Frank, Jinghua Feng, Paul Wang, David M. Lawrence, Leila Eshraghi, Luis Arriola, John Toubia, Hung Nguyen, George McGillivray, Jason Pinner, Fiona McKenzie, Rebecca Morrow, Jill Lipsett, Nick Manton, T. Yee Khong, Lynette Moore, Jan E. Liebelt, Andreas W. Schreiber, Sarah L. King-Smith, Tristan S. E. Hardy, Matilda R. Jackson, Christopher P. Barnett, Hamish S. Scott, Broad Inst Ctr Mendelian Genomics, Genomic Autopsy Study Res Network
Article
Cell Biology
Kellen D. Winden, Truc T. Pham, Nicole A. Teaney, Juan Ruiz, Ryan Chen, Cidi Chen, Mustafa Sahin
Summary: Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder, and understanding its pathological mechanisms is crucial for new therapies. Studies have shown that alterations in mechanistic target of rapamycin (mTOR) and fragile X messenger ribonucleoprotein 1 (FMRP) are associated with ASD development in TSC and fragile X syndrome. This study demonstrates that FMRP dysregulation plays a significant role in the abnormal neuronal activity in TSC, highlighting a molecular convergence between these two neurogenetic disorders.
Article
Clinical Neurology
Jacqueline A. French, Roger J. Porter, Emilio Perucca, Martin J. Brodie, Michael A. Rogawski, Simon Pimstone, Ernesto Aycardi, Cynthia Harden, Jenny Qian, Constanza Luzon Rosenblut, Christopher Kenney, Gregory N. Beatch
Summary: This phase 2b clinical trial showed that treatment with XEN1101 led to a significant and dose-dependent reduction in monthly seizure frequency in adults with focal-onset seizures. The results support the further development of XEN1101 for the treatment of FOSs.
Article
Clinical Neurology
Sameer C. Dhamne, Meera E. Modi, Audrey Gray, Simone Bonazzi, Lucas Craig, Elizabeth Bainbridge, Lahin Lalani, Chloe E. Super, Samantha Schaeffer, Ketthsy Capre, Danuta Lubicka, Guiqing Liang, Doug Burdette, Stephanie M. McTighe, Sarika Gurnani, Sheryl Anne D. Vermudez, Daniel Curtis, Christopher J. Wilson, Mustafa Q. Hameed, Angelica D'Amore, Alexander Rotenberg, Mustafa Sahin
Summary: This study tested the efficacy of a novel mTOR catalytic inhibitor (TC1) in the treatment of TSC and found that it reduced seizure burden, extended survival, and restored normal weight gain in Tsc2 hypomorphic mice. Therefore, TC1 shows promise as a therapeutic option for TSC.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2023)
Article
Medicine, Research & Experimental
Xin Chen, Thomas Dong, Yuhui Hu, Raffaella De Pace, Rafael Mattera, Kathrin Eberhardt, Marvin Ziegler, Terry Pirovolakis, Mustafa Sahin, Juan S. Bonifacino, Darius Ebrahimi-Fakhari, Steven J. Gray
Summary: Spastic paraplegia 50 (SPG50) is an ultrarare childhood-onset neurological disorder caused by biallelic loss-of-function variants in the AP4M1 gene. In preclinical studies, adeno-associated virus (AAV)/AP4M1 gene therapy showed promising results in rescuing the symptoms of SPG50. The therapy was effective in transducing patient-derived fibroblasts and demonstrated dose-dependent effects in Ap4m1-KO mice, supporting the potential for a clinical trial in treating SPG50 through intrathecal administration of AAV9/AP4M1.
JOURNAL OF CLINICAL INVESTIGATION
(2023)
Article
Genetics & Heredity
Michael S. Breen, Xuanjia Fan, Tess Levy, Rebecca M. Pollak, Brett Collins, Aya Osman, Anna S. Tocheva, Mustafa Sahin, Elizabeth Berry-Kravis, Latha Soorya, Audrey Thurm, Craig M. Powell, Jonathan A. Bernstein, Alexander Kolevzon, Joseph D. Buxbaum
Summary: By analyzing the peripheral blood transcriptome and serum metabolome of individuals with Phelan-McDermid syndrome (PMS), researchers discovered gene expression profiles closely related to 22q13.3 deletion size. Additionally, they found underexpressed genes in PMS participants with class II mutations, not linked to 22q13.3, which were associated with glycosphingolipid metabolism, NCAM1 interactions, and cytotoxic natural killer (NK) immune cell signatures. This study provides new insights into the molecular perturbations and potential therapeutic targets for PMS.
HUMAN GENETICS AND GENOMICS ADVANCES
(2023)