Article
Plant Sciences
Mariko Kato, Machiko Watari, Tomohiko Tsuge, Sheng Zhong, Hongya Gu, Li-Jia Qu, Takashi Fujiwara, Takashi Aoyama
Summary: Phosphatidylinositol 4-phosphate 5-kinase (PIP5K) and its product PtdIns(4,5)P-2 play a crucial role in pollen germination, possibly by establishing germination polarity in pollen.
Article
Plant Sciences
Machiko Watari, Mariko Kato, Romain Blanc-Mathieu, Tomohiko Tsuge, Hiroyuki Ogata, Takashi Aoyama
Summary: Phosphatidylinositol 4-phosphate 5-kinase (PIP5K) is involved in regulating cellular processes. The study analyzed the functions of PIP5K genes in Arabidopsis and found different functions and promoter activities among PIP5K1, PIP5K2, and PIP5K3.
PLANT AND CELL PHYSIOLOGY
(2022)
Article
Plant Sciences
Ryo Kuroda, Mariko Kato, Tomohiko Tsuge, Takashi Aoyama
Summary: This study investigated the biological functions of the PIP5K7-9 subgroup genes in Arabidopsis thaliana, revealing their preferential expression in specific tissues and plasma membrane localization in root meristem cells. The genes were found to be redundant in adapting root growth to hyperosmotic conditions, possibly through promoting plasma membrane recycling in root meristem cells.
Review
Biochemistry & Molecular Biology
Kaori Kanemaru, Yoshikazu Nakamura
Summary: Phospholipase C (PLC) metabolizes phosphatidylinositol 4,5-bisphosphate in the plasma membrane and generates inositol 1,4,5-trisphosphate and diacylglycerol, which regulate cellular functions. Mammalian PLC consists of six typical classes and one atypical class, and dysregulation of PLC activity is associated with various diseases. Therefore, the review focuses on the structure, activation mechanisms, and physiological functions of mammalian PLC.
Article
Gastroenterology & Hepatology
Yonglong Zhang, Hui Wang, Tao Chen, Haolu Wang, Xiaowen Liang, Yuchen Zhang, Jinlin Duan, Shenjiao Qian, Ke Qiao, Lei Zhang, Yanfeng Liu, Jian Wang
Summary: This study revealed aberrant ceramide biosynthesis in GBC tissues and identified C24-Ceramide as a potential diagnostic biomarker for GBC patients. Additionally, it proposed a potential therapeutic intervention for GBC through competition with C24-Ceramide via PIP4K2C.
Article
Physics, Multidisciplinary
Chenceline Fouedji, Armand Sylvin Eteme, Conrad Bertrand Tabi, Henri Paul Ekobena Fouda
Summary: Investigated the wave instability conditions in a reaction-diffusion system describing the dynamics of MARCKS between cytosol and cytoplasmic membrane, revealing different spatial patterns in the system.
EUROPEAN PHYSICAL JOURNAL PLUS
(2023)
Article
Biochemistry & Molecular Biology
Fumi Hoshino, Fumio Sakane
Summary: AP180 protein is crucial for driving endocytosis by interacting with clathrin and it can be selectively regulated by 18:0/22:6-PA, which attenuates its interaction with clathrin. This novel mechanism sheds light on the disassembly of AP180/clathrin-containing cages.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2022)
Article
Microbiology
Maria Balazova, Petra Vesela, Lenka Babelova, Ivana Durisova, Paulina Kanovicova, Jakub Zahumensky, Jan Malinsky
Summary: The absence of Isc1 in yeast leads to mitochondrial dysfunction, but this defect can be rescued by the deletion of phospholipase Pgc1. Pgc1 regulates lipid homeostasis by inhibiting the activities of other phospholipases and controlling phospholipid synthesis. The interconnection of Isc1 and Pgc1 plays a significant role in maintaining lipid balance in the cell.
MICROBIOLOGY SPECTRUM
(2022)
Article
Biochemistry & Molecular Biology
Kenneth D. Maus, Daniel J. Stephenson, Anika N. Ali, Henry Patrick MacKnight, Huey-Jing Huang, Jordi Serrats, Minjung Kim, Robert F. Diegelmann, Charles E. Chalfant
Summary: This study found that inhibiting CERK can increase the rate and quality of wound healing by altering the eicosanoid profile and enhancing fibroblast migration. It also discovered that C1P produced by CERK acts as a negative regulator of 5-oxo-ETE biosynthesis and the activation of oxoeicosanoid receptor 1 in wound healing.
JOURNAL OF LIPID RESEARCH
(2022)
Article
Biochemistry & Molecular Biology
Javier Casas, Jesus Balsinde, Maria A. Balboa
Summary: Phosphorylation of IVA cytosolic phospholipase A(2)alpha is crucial for its translocation to membranes rich in phosphatidylinositol (4,5) bisphosphate. This phosphorylation process regulates the mobilization of arachidonic acid and the synthesis of prostaglandins.
Article
Cell Biology
Cintia C. Vaquer, Laila Suhaiman, Martin A. Pavarotti, Rodolfo J. Arias, Anahi B. Pacheco Guinazu, Gerardo A. De Blas, Silvia A. Belmonte
Summary: This study reveals the role of different sphingolipids in the acrosome exocytosis of human spermatozoa. Ceramide increases intracellular calcium and stimulates the acrosome reaction by activating various channels. The addition of ceramide 1-phosphate (C1P) induces exocytosis in intact, capacitated human sperm, requiring extracellular calcium through voltage-operated and store-operated calcium channels. C1P synthesis by ceramide kinase (CERK) is mainly responsible for ceramide-induced exocytosis. The presence of CERK in human sperm and its calcium-stimulated enzymatic activity during the acrosome reaction is reported for the first time. Interestingly, progesterone also requires CERK activity to induce calcium increase and acrosome exocytosis, implicating C1P in the physiological progesterone pathway.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Yeun Ju Kim, Nivedita Sengupta, Mira Sohn, Amrita Mandal, Joshua G. Pemberton, Uimook Choi, Tamas Balla
Summary: This study reveals that the metabolic fate of newly synthesized phosphatidic acid (PA), the lipid precursor of phosphatidylinositol (PI), is influenced by the fatty acyl-CoA used, leading to preferential routing of the arachidonoyl-enriched species towards PI synthesis. Additionally, the unsaturated forms of PI(4,5P)(2) are replenished faster than the saturated forms during PLC activation, indicating a favored recycling of the unsaturated forms of the PLC-generated hydrolytic products. CDS2 contributes to increased PI resynthesis during PLC activation, while Nir2 contributes to rapid PPIn resynthesis, but the faster re-synthesis of the 38:4 species does not depend on Nir2. Therefore, the fatty acid side-chain composition of the lipid precursors used for PI synthesis is an important determinant of their metabolic fates and the maintenance of the unique fatty acid profile of PPIn lipids.
Article
Biochemistry & Molecular Biology
Rika Suzuki, Chiaki Murakami, Kamila Dilimulati, Kyoko Atsuta-Tsunoda, Takuma Kawai, Fumio Sakane
Summary: Sphingomyelin synthase 1 (SMS1) is an enzyme involved in lipodystrophy, deafness, and thrombasthenia. It can generate diacylglycerol (DG) and sphingomyelin (SM) by hydrolyzing phosphatidylcholine (PC) and phosphatidylethanolamine (PE) in the absence of ceramide and ceramide phosphoethanolamine synthase (CPES) activity.
Article
Cell Biology
Alaa Droubi, Connor Wallis, Karen E. Anderson, Saifur Rahman, Aloka de Sa, Taufiq Rahman, Len R. Stephens, Philip T. Hawkins, Martin Lowe
Summary: This study identifies the inositol 5-phosphatase INPP5B as a key regulator of actin remodeling, BCR clustering, and downstream signaling in antigen-stimulated B cells. INPP5B acts by dephosphorylating PI(4,5)P-2, which is necessary for actin disassembly, BCR mobilization, and cell spreading. INPP5B may represent a potential target for the treatment of B cell malignancies caused by aberrant BCR signaling.
JOURNAL OF CELL BIOLOGY
(2022)
Article
Physiology
Lizbeth de la Cruz, Christopher Kushmerick, Jane M. Sullivan, Martin Kruse, Oscar Vivas
Summary: This study investigates the metabolism of phosphoinositides in different cell types and finds that central neurons have a larger PtdIns(4)P pool and synthesize PtdIns(4,5)P-2 at a faster rate. The study highlights the cell-type specific mechanisms involved in maintaining PtdIns(4,5)P-2 levels.
JOURNAL OF GENERAL PHYSIOLOGY
(2022)
Article
Genetics & Heredity
Emma H. Wilcox, Mahdi Sarmady, Bryan Wulf, Matt W. Wright, Heidi L. Rehm, Leslie G. Biesecker, Ahmad N. Abou Tayoun
Summary: According to the ACMG/AMP guidelines, in silico evidence plays a significant role in the strength level of pathogenic and benign evidence. The study found that these criteria are commonly used and can impact variant classification outcomes. When appropriate thresholds are established, these criteria can be used effectively at a moderate strength level.
GENETICS IN MEDICINE
(2022)
Review
Multidisciplinary Sciences
Qian Zhang, Paul Bastard, Aurelie Cobat, Jean-Laurent Casanova
Summary: SARS-CoV-2 infection is generally mild, but in around 10% of cases, it can lead to severe pneumonia and potentially death. Genetic factors, such as inborn errors of type I interferons, and pre-existing auto-antibodies can increase the risk of critical illness. The production of type I interferons is essential for host defense against the virus.
Article
Biotechnology & Applied Microbiology
Laura M. Woods, Fahad R. Ali, Roshna Gomez, Igor Chernukhin, Daniel Marcos, Lydia M. Parkinson, Ahmad N. Abou Tayoun, Jason S. Carroll, Anna Philpott
Summary: Enhancing ASCL1 activity in a neurogenic environment increases binding at endogenous ASCL1 sites and results in additional binding to new low affinity sites that favor neuronal differentiation.
Meeting Abstract
Biochemistry & Molecular Biology
Richa Tambi, Sharon Nandkishore, Shermin Sharafat, Faiza Kader, Nasna Nassir, Zehra Binte Ashraf, Nesrin Mohamed, Awab Ahmed, Reem Abdel Hameid, Alan Taylor
Article
Genetics & Heredity
Marilyn M. Li, Ahmad Abou Tayoun, Marina DiStefano, Arti Pandya, Heidi L. Rehm, Nathaniel H. Robin, Amanda M. Schaefer, Christine Yoshinaga-Itano
Summary: Hearing loss is a common and complex condition that can occur at any age and has various causes and manifestations. Traditional clinical evaluations may struggle to determine the etiologic diagnosis for many deaf and hard-of-hearing individuals. However, identifying the cause can impact clinical management, improve prognostic accuracy, and enhance genetic counseling for relatives. Linguistic and cultural identities associated with being deaf or hard-of-hearing can pose challenges in accessing and providing effective clinical care. This clinical practice resource provides information on hearing loss and offers approaches for evaluating deaf and hard-of-hearing individuals to determine the etiologic diagnosis and provide informative patient education and genetic counseling.
GENETICS IN MEDICINE
(2022)
Letter
Biochemistry & Molecular Biology
Petter Brodin, Giorgio Casari, Liam Townsend, Cliona O'Farrelly, Ivan Tancevski, Judith Loeffler-Ragg, Trine H. Mogensen, Jean Laurent Casanova
Article
Genetics & Heredity
Jiale Xiang, Xiangzhong Sun, Nana Song, Sathishkumar Ramaswamy, Ahmad N. Abou Tayoun, Zhiyu Peng
Summary: This study delineated the genetic and phenotypic characteristics of GJB2 SNV variants and identified various types of variants associated with hearing loss. It also revealed significant correlations between genotypes and phenotypes at this common hearing loss locus.
Article
Genetics & Heredity
Vikas Pejaver, Alicia B. Byrne, Bing-Jian Feng, Kymberleigh A. Pagel, Sean D. Mooney, Rachel Karchin, Anne O'Donnell-Luria, Steven M. Harrison, Sean Tavtigian, Marc S. Greenblatt, Leslie G. Biesecker, Predrag Radivojac, Steven E. Brenner
Summary: The American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) provide recommendations for interpreting sequence variants, specifying the use of computational predictors as evidence for pathogenicity or benignity. However, the lack of quantitative support in the score intervals defined by tool developers and ACMG/AMP recommendations that require consensus of multiple predictors is addressed by a probabilistic framework proposed by the researchers. This framework is extended to computational predictors and introduces a new standard for converting tool scores to evidence strengths.
AMERICAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Genetics & Heredity
Maha El Naofal, Sathishkumar Ramaswamy, Ali Alsarhan, Ahmed Nugud, Fatima Sarfraz, Hiba Janbaz, Alan Taylor, Ruchi Jain, Nour Halabi, Sawsan Yaslam, Roudha Alfalasi, Shruti Shenbagam, Fatma Rabea, Martin Bitzan, Lemis Yavuz, Deena Wafadari, Hamda Abulhoul, Shiva Shankar, Munira Al Maazmi, Ruba Rizk, Zeinab Alloub, Haitham Elbashir, Mohamed O. E. Babiker, Nidheesh Chencheri, Ammar AlBanna, Meshal Sultan, Mohamed El Bitar, Safeena Kherani, Nandu Thalange, Sattar Alshryda, Roberto Di Donato, Christos Tzivinikos, Ibrar Majid, Alexandra F. F. Freeman, Corina Gonzalez, Arif O. O. Khan, Hisham Hamdan, Walid Abuhammour, Mohamed AlAwadhi, Abdulla AlKhayat, Alawi Alsheikh-Ali, Ahmad N. N. Abou Tayoun
Summary: Rare diseases pose a significant burden on healthcare systems in underserved regions like the Middle East. Establishing clinical genomics and genetic counseling facilities can improve diagnosis and management for patients with rare diseases. The study found that genomic sequencing-based testing had a higher diagnostic yield compared to chromosomal microarrays and early access to genomic diagnostics could improve clinical outcomes for patients in the Middle East.
Article
Chemistry, Multidisciplinary
Guillermo Moreno-Pescador, Mohammad Reza Arastoo, Victoria Thusgaard Ruhoff, Salvatore Chiantia, Robert Daniels, Poul Martin Bendix
Summary: Many cellular processes involve the lateral organization of membrane proteins into nanoscale domains. The mechanisms behind the clustering of membrane proteins into nanoscale lipid domains are not well understood. In this study, a method combining optical trapping, thermo-plasmonic-mediated membrane fusion, and confocal imaging was developed to investigate the phase affinity of membrane proteins. It was observed that the transferred membrane proteins partitioned into the liquid disordered phase of the model membranes. This generic platform allows the study of phase affinity for any plasma membrane protein labeled with a fluorescent marker.
Article
Virology
Pia Weidinger, Jolanta Kolodziejek, Tamer Khafaga, Tom Loney, Brigitte Howarth, Moayyed Sher Shah, Ahmad Abou Tayoun, Alawi Alsheikh-Ali, Jeremy V. Camp, Norbert Nowotny
Summary: The study investigated the potential reservoir of viral infectious diseases in humans by sampling wild rodents in a desert reserve in Dubai, UAE. Screening for various viruses revealed negative results, except for herpesviruses. Phylogenetic analysis identified three novel betaherpesviruses and four novel gammaherpesviruses. Species identification of positive gerbils showed a separate clade related to Dipodillus campestris, indicating either an expansion of geographic range or the existence of a closely related, undiscovered species. Overall, no evidence of potentially zoonotic viruses was found in the limited sample size of the rodent cohorts.
Letter
Biochemistry & Molecular Biology
Ahmad N. Abou Tayoun, Alawi Alsheikh-Ali
Editorial Material
Genetics & Heredity
Ahmad N. Abou Tayoun
Summary: Current studies on genomic newborn screening have a bias towards high-income countries, highlighting the need for inclusive research that represents historically under-represented populations to ensure global equity in access to such screening.
NATURE REVIEWS GENETICS
(2023)
Article
Multidisciplinary Sciences
Annett Petrich, Amit Koikkarah Aji, Valentin Dunsing, Salvatore Chiantia
Summary: Protein-protein interactions are crucial for cellular functions, and non-invasive techniques are used to evaluate these interactions in living cells for a better understanding of biological processes. Fluorescence fluctuation spectroscopy is a quantitative microscopy approach that characterizes molecular interactions at single cell resolution. Evaluating the photophysical behavior of fluorescent proteins is critical for selecting appropriate tags for live cell imaging applications.
Article
Medical Laboratory Technology
Ruchi Jain, Fatima Rabea, Roudha Alfalasi, Mohamed Wasfy Elabiary, Ahmad Abou Tayoun
JOURNAL OF APPLIED LABORATORY MEDICINE
(2023)