Review
Neurosciences
Iryna Kamienieva, Jerzy Duszynski, Joanna Szczepanowska
Summary: The familial form of Parkinson's disease is linked to mutations in specific genes, with mutations in the parkin gene being one of the most common causes of early-onset PD. Mitochondrial dysfunction is an emerging active player in the pathology of neurodegenerative diseases, as mitochondria are highly dynamic structures integrated with many cellular functions.
TRANSLATIONAL NEURODEGENERATION
(2021)
Article
Medicine, Research & Experimental
Abhimanyu Garg, Wee-Teik Keng, Zhenkang Chen, Adwait Amod Sathe, Chao Xing, Pavithira Devi Kailasam, Yanqiu Shao, Nicholas P. Lesner, Claire B. Llamas, Anil K. Agarwal, Prashant Mishra
Summary: This study reported a rare form of progeria caused by a homozygous missense variant in the TOMM7 gene. The abnormality in mitochondrial protein import due to the mutation resulted in severe growth retardation and progeroid features.
JOURNAL OF CLINICAL INVESTIGATION
(2022)
Article
Genetics & Heredity
Marialetizia Motta, Giulia Fasano, Sina Gredy, Julia Brinkmann, Adeline Alice Bonnard, Pelin Ozlem Simsek-Kiper, Elif Yilmaz Gulec, Leila Essaddam, Gulen Eda Utine, Ingrid Guarnetti Prandi, Martina Venditti, Francesca Pantaleoni, Francesca Clementina Radio, Andrea Ciolfi, Stefania Petrini, Federica Consoli, Cedric Vignal, Denis Hepbasli, Melanie Ullrich, Elke de Boer, Lisenka E. L. M. Vissers, Sami Gritli, Cesare Rossi, Alessandro De Luca, Saayda Ben Becher, Bruce D. Gelb, Bruno Dallapiccola, Antonella Lauri, Giovanni Chillemi, Kai Schuh, Helene Cave, Martin Zenker, Marco Tartaglia
Summary: Loss of function of SPRED2 is causally linked to a recessive phenotype resembling Noonan syndrome, resulting in enhanced signaling. Variants severely affect protein stability and disrupt functional behavior to different extents. This study identifies the second recessive form of Noonan syndrome and highlights the pleiotropic consequences of SPRED2 loss of function in development.
AMERICAN JOURNAL OF HUMAN GENETICS
(2021)
Article
Genetics & Heredity
Hanan E. Shamseldin, Nada Derar, Hamad Alzaidan, Naif AlHathal, Abdullah Alfalah, Firdous Abdulwahab, Tariq Alzaid, Salim Alkeraye, Saud A. Alobaida, Fowzan S. Alkuraya
Summary: This article reports two consanguineous families with congenital ichthyosis, and identifies novel homozygous likely deleterious variants in PRSS8 through positional mapping and exome sequencing. The variant affecting canonical splice site was associated with reduced abundance of the normal transcript, while the missense variant altered a highly conserved residue. The phenotype observed in Prss8 knockout mice resembles the symptoms in human patients, suggesting a novel PRSS8-related ichthyosis disorder.
Article
Genetics & Heredity
Kari J. Ekenstedt, Katie M. Minor, G. Diane Shelton, James J. Hammond, Andrew D. Miller, Susan M. Taylor, Yanyun Huang, James R. Mickelson
Summary: ARSACS is a human neurological disorder characterized by progressive cerebellar ataxia and peripheral neuropathy. A similar disorder was recently identified in Great Pyrenees dogs, showing widespread central nervous system degeneration leading to progressive cerebellar ataxia and spasticity, combined with peripheral neuropathy. The disease follows an autosomal recessive inheritance pattern and is associated with mutations in the SACS gene.
Article
Genetics & Heredity
Hila Fridman, Helger G. Yntema, Reedik Magi, Reidar Andreson, Andres Metspalu, Massimo Mezzavila, Chris Tyler-Smith, Yali Xue, Shai Carmi, Ephrat Levy-Lahad, Christian Gilissen, Han G. Brunner
Summary: Genome sequencing revealed that each individual in the European population carries at least 2 pathogenic variants, with nearly 1% of European couples facing the risk of having a child with a severe genetic disorder. The risk is significantly higher for first cousins and particularly increased for skeletal disorders and intellectual disabilities due to their unique genetic architecture.
AMERICAN JOURNAL OF HUMAN GENETICS
(2021)
Article
Genetics & Heredity
Fang Fu, Ru Li, Ting-ying Lei, Dan Wang, Xin Yang, Jin Han, Min Pan, Li Zhen, Jian Li, Fa-tao Li, Xiang-yi Jing, Dong-zhi Li, Can Liao
Summary: This study identified compound heterozygous mutations in the ASXL3 gene associated with congenital heart disease, which may influence cardiac development through affecting cell apoptosis and cardiac structure. The mutations affected the expression of mRNAs associated with cell apoptosis and proliferation, suggesting a potential role of ASXL3 in cardiac development.
Review
Clinical Neurology
Ajith Cherian, K. P. Divya, Asish Vijayaraghavan
Summary: Our understanding of the genetic architecture underlying Parkinson's disease has greatly improved in the past 25 years. 5-10% of patients have a monogenic form of the disease. Mutations in autosomal dominant or recessive genes can cause genetic Parkinson's disease. The discovery of mutations in the RIC3 gene provides strong evidence for the role of the cholinergic pathway in the development of Parkinson's disease.
CURRENT OPINION IN NEUROLOGY
(2023)
Article
Endocrinology & Metabolism
Meena Bandhakavi, Amy Wanaguru, Loveline Ayuk, Jeremy M. Kirk, Timothy G. Barrett, Melanie Kershaw, Wolfgang Hogler, Nicholas J. Shaw
Summary: This study presents a single-center experience with children affected by autosomal recessive pseudohypoaldosteronism over a 37-year period, showing severe early-onset symptoms, high mortality rates, but also the possibility of survival with normal outcomes.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2021)
Article
Multidisciplinary Sciences
Serdal Gungor, Yavuz Oktay, Semra Hiz, Alvaro Aranguren-Ibanez, Ipek Kalafatcilar, Ahmet Yaramis, Ezgi Karaca, Uluc Yis, Ece Sonmezler, Burcu Ekinci, Mahmut Aslan, Elmasnur Yilmaz, Bilge Ozgor, Sunitha Balaraju, Nora Szabo, Steven Laurie, Sergi Beltran, Daniel G. MacArthur, Denisa Hathazi, Ana Topf, Andreas Roos, Hanns Lochmuller, Isabelle Vernos, Rita Horvath
Summary: The study identified a homozygous mutation in TUBGCP2 in two siblings from a consanguineous Turkish family, causing disruption of the interaction between GCP2 and GCP3. These findings link the gamma-tubulin complex to the development of the central nervous system in humans through functional and proteomic studies.
Article
Multidisciplinary Sciences
Yuda Huo, Wen Lu, Yuan Tian, Qingming Hou, Heng-Ye Man
Summary: This study found that Prkn knockout mice exhibit autistic-like behaviors and abnormalities in neuronal activity, cell morphology, and synapse density. This suggests the importance of the Prkn gene in brain development and the potential use of Prkn KO mice as a model for autism research.
Article
Genetics & Heredity
Daniel Peter Sayer Osborn, Leila Emrahi, Joshua Clayton, Mehrnoush Toufan Tabrizi, Alex Yui Bong Wan, Reza Maroofian, Mohammad Yazdchi, Michael Leon Enrique Garcia, Hamid Galehdari, Camila Hesse, Gholamreza Shariati, Neda Mazaheri, Alireza Sedaghat, Hayley Goullee, Nigel Laing, Yalda Jamshidi, Homa Tajsharghi
Summary: This study identified genetic causes of recessive familial cardiomyopathy using exome sequencing. The results suggest that homozygous MYL3 loss-of-function variants may lead to the development of recessive cardiomyopathy and sudden cardiac death.
GENETICS IN MEDICINE
(2021)
Article
Endocrinology & Metabolism
Xiaolin Ni, Yiyi Gong, Yan Jiang, Xiang Li, Qianqian Pang, Wei Liu, Yue Chi, Ruizhi Jiajue, Ou Wang, Mei Li, Xiaoping Xing, Weibo Xia
Summary: This study reports the first case of compound heterozygous DMP1 mutations in a Chinese patient with autosomal recessive hypophosphatemic rickets type 1 (ARHR1). The mutations were a large deletion and a novel start codon mutation (c.1A > T, p.Met1Leu). The findings suggest a potential association of these mutations with the development of ARHR1.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Cell & Tissue Engineering
Anna Poon, Harpreet Saini, Siddharth Sethi, Gregory A. O'Sullivan, Helene Plun-Favreau, Selina Wray, Lee A. Dawson, James M. McCarthy
Summary: Sequestosome-1 (SQSTM1/p62) plays a crucial role in neurodegenerative diseases, but its precise function in mitochondrial function and clearance remains unclear. Research has shown that SQSTM1 depletion affects mitochondrial gene expression and functionality, as well as autophagy flux, but it is not essential for mitophagy.
Review
Dermatology
M. Akiyama
Summary: Isolated autosomal recessive woolly hair/hypotrichosis (ARWH) is a rare genetic hair disorder with different types caused by mutations in various genes. Frequencies of causative gene mutations in ARWH patients may vary among different ethnic groups.
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Atul Kumar, Jacob D. Aguirre, Tara E. C. Condos, R. Julio Martinez-Torres, Viduth K. Chaugule, Rachel Toth, Ramasubramanian Sundaramoorthy, Pascal Mercier, Axel Knebel, Donald E. Spratt, Kathryn R. Barber, Gary S. Shaw, Helen Walden
Article
Biochemistry & Molecular Biology
Susanna George, Jacob D. Aguirre, Donald E. Spratt, Yumin Bi, Madeline Jeffery, Gary S. Shaw, Patrick O'Donoghue
Article
Multidisciplinary Sciences
Kenneth Wu, Robert A. Chong, Qing Yu, Jin Bai, Donald E. Spratt, Kevin Ching, Chan Lee, Haibin Miao, Inger Tappin, Jerard Hurwitz, Ning Zheng, Gary S. Shaw, Yi Sun, Dan P. Felsenfeld, Roberto Sanchez, Jun-nian Zheng, Zhen-Qiang Pan
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2016)
Article
Multidisciplinary Sciences
Jacob D. Aguirre, Karen M. Dunkerley, Pascal Mercier, Gary S. Shaw
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2017)
Article
Chemistry, Multidisciplinary
Yiming Xiao, Gary S. Shaw, Lars Konermann
JOURNAL OF THE AMERICAN CHEMICAL SOCIETY
(2017)
Article
Chemistry, Multidisciplinary
Victor Yin, Gary S. Shaw, Lars Konermann
JOURNAL OF THE AMERICAN CHEMICAL SOCIETY
(2017)
Article
Biochemistry & Molecular Biology
Atul Kumar, Viduth K. Chaugule, Tara E. C. Condos, Kathryn R. Barber, Clare Johnson, Rachel Toth, Ramasubramanian Sundaramoorthy, Axel Knebel, Gary S. Shaw, Helen Walden
NATURE STRUCTURAL & MOLECULAR BIOLOGY
(2017)
Editorial Material
Biochemistry & Molecular Biology
Karen M. Dunkerley, Gary S. Shaw
Article
Biochemistry & Molecular Biology
Atul Kumar, Viduth K. Chaugule, Tara E. C. Condos, Kathryn R. Barber, Clare Johnson, Rachel Toth, Ramasubramanian Sundaramoorthy, Axel Knebel, Gary S. Shaw, Helen Walden
NATURE STRUCTURAL & MOLECULAR BIOLOGY
(2017)
Meeting Abstract
Biophysics
Donald E. Spratt, Pascal Mercier, Zhen-Qiang Pan, Gary S. Shaw
BIOPHYSICAL JOURNAL
(2014)
Article
Multidisciplinary Sciences
Robert A. Chong, Kenneth Wu, Donald E. Spratt, Yingying Yang, Chan Lee, Jaladhi Nayak, Ming Xu, Rana Elkholi, Inger Tappin, Jessica Li, Jerard Hurwitz, Brian D. Brown, Jerry Edward Chipuk, Zhijian J. Chen, Roberto Sanchez, Gary S. Shaw, Lan Huang, Zhen-Qiang Pan
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2014)
Article
Biochemistry & Molecular Biology
Andrey M. Grishin, Tara E. C. Condos, Kathryn R. Barber, Francois-Xavier Campbell-Valois, Claude Parsot, Gary S. Shaw, Miroslaw Cygler
Article
Biochemistry & Molecular Biology
Tara E. C. Condos, Karen M. Dunkerley, E. Aisha Freeman, Kathryn R. Barber, Jacob D. Aguirre, Viduth K. Chaugule, Yiming Xiao, Lars Konermann, Helen Walden, Gary S. Shaw
Article
Biochemistry & Molecular Biology
Donald E. Spratt, Kathryn R. Barbers, Nicole M. Marlatt, Vy Ngo, Jillian A. Macklin, Yiming Xiao, Lars Konermann, Martin L. Duennwald, Gary S. Shaw
Review
Biochemistry & Molecular Biology
ZiWei Li, Gary S. Shaw
Summary: Cell membrane repair is a crucial process for cell survival and integrity, which involves multiple mechanisms such as exocytosis, endocytosis, patching, and shedding. Calcium-sensor proteins, including synaptotagmins, dysferlin, S100 proteins, and annexins, play a regulatory or participatory role in membrane repair. Dysfunctions or genetic alterations in these proteins can lead to diseases such as muscular dystrophy and heart disease. This review focuses on the role of key calcium-sensor proteins in membrane repair.
BIOSCIENCE REPORTS
(2023)