Results 101 to 110 of about 12,639 (247)

Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1 [PDF]

, 2015
Spinal muscular atrophy with respiratory distress (SMARD1) is an autosomal recessive neuromuscular disease caused by mutations in the IGHMBP2 gene, encoding the immunoglobulin μ-binding protein 2, leading to motor neuron degeneration.
Corti, Stefania, Parente, Valeria, Porro, Francesca, Rinchetti, Paola, Vanoli, Fiammetta   +4 more
core   +2 more sources

New cases of δ‐aminolevulinic acid dehydratase deficiency: Functional insights into gene variants using an innovative mouse liver model

Journal of Internal Medicine, Volume 299, Issue 1, Page 126-142, January 2026.
Abstract Background Dysfunction of δ‐aminolevulinic acid dehydratase (ALAD), the second enzyme involved in heme biosynthesis, leads to two pathologies: genetic and acquired. The genetic form is an ultrarare, severe childhood‐onset disease inherited in an autosomal recessive manner, whereas the acquired form usually affects adults due to enzyme ...
Elena Di Pierro, Isabel Solares, Daniel Jericó, Francisco J. Castelbón, Javier Tomás Solera, Antoni Riera‐Mestre, María Barreda‐Sánchez, Carlo Poci, Annamaria Nicolli, Francesco Urigo, Ana Sampedro, Rafael Enríquez de Salamanca, Matteo Marcacci, Matías A. Ávila, Pauline Harper, Marta G. Fanlo‐Maresma, Encarna Guillén‐Navarro, Giovanna Graziadei, Andrea Wenzel, Bodo B. Beck, Paolo Ventura, Montserrat Morales‐Conejo, Antonio Fontanellas   +22 more
wiley   +1 more source

Decay in survival motor neuron and plastin 3 levels during differentiation of iPSC-derived human motor neurons [PDF]

, 2015
Spinal muscular atrophy (SMA) is a neuromuscular disease caused by mutations in Survival Motor Neuron 1 (SMN1), leading to degeneration of alpha motor neurons (MNs) but also affecting other cell types.
AD Ebert, AE Emery, AJ Lee, B Ackermann, B Wirth, BS Russman, BY Hu, C Soler-Botija, C Soler-Botija, C Soler-Botija, C Yanyan, CH Wang, CJ Sumner, CL Lorson, CL Lorson, CL Lorson, D Germain-Desprez, D Sareen, D Shafey, E Also-Rallo, E Bussaglia, E Bussaglia, E Dominguez, E Hahnen, EF Tizzano, F Buchthal, F Capon, F Gabanella, FD Tiziano, FD Tiziano, G Hamilton, G Novelli, G Stratigopoulos, GE Oprea, I Cusco, I Cusco, IH Park, JM Cobben, JN Sleigh, JV McGivern, K Takahashi, K Zerres, KD Foust, LR Simard, M Feldkotter, M Jedrzejowska, M Vezain, MC Marchetto, ME Hester, ML McWhorter, PE Mangeot, Q Ymlahi-Ouazzani, R Martinez-Hernandez, R Martinez-Hernandez, RJ Yáñez-Muñoz, S Bernal, S Jablonka, S Jablonka, S Jablonka, S Lefebvre, S Lefebvre, S Pagliardini, S. Corti, SJ Kolb, SK Lee, SR Thomson, T Chang, T Hao le, T Hao le, TL Martinez, TL Munsat, TO Crawford, V La Bella, W Rossoll, XJ Li, Y Maury, ZB Wang   +76 more
core   +2 more sources

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source

Molecular bases of spinal muscular atrophy: the survival motor neuron gene [PDF]

, 2001
L'atròfia muscular espinal (AME) és una malaltia neuromuscular autosòmica recessiva caracteritzada per Ia degeneració i Ia pèrdua de Ies motoneurones de Ia banya anterior de Ia medul·la espinal.
Baiget Bastús, Montserrat, Tizzano, Eduardo   +1 more
core  

Self-oligomerization regulates stability of survival motor neuron protein isoforms by sequestering an SCF^Slmb degron [PDF]

, 2017
Spinal muscular atrophy (SMA) is caused by homozygous mutations in human SMN1. Expression of a duplicate gene (SMN2) primarily results in skipping of exon 7 and production of an unstable protein isoform, SMNΔ7.
A. Gregory Matera, Ackermann B, Ahmad S, Allison D. Ebert, Amanda C. Raimer, Angus I. Lamond, Ashlyn M. Spring, Bischof J, Bowerman M, Bowerman M, Burghes Arthur HM, Burnett BG, Cauchi RJ, Chan YB, Chang HC, Chang HCH, Charroux B, Chen PC, Cho S, Choudhury R, Christian L. Lorson, Coovert DD, Crawford TO, Custer SK, David Baillat, Dimitriadi M, Dominguez E, Ebert AD, Ebert AD, Eric J. Wagner, Fan L, Fischer U, Foust KD, Frescas D, Fuchs SY, Garcia EL, Garcia EL, Gates J, Genabai NK, Glascock JJ, Gregory D. Van Duyne, Groen EJN, Gupta K, Guruharsha KG, Han KJ, Hosseinibarkooie S, Hsieh-Li HM, Hsu SH, Ikeda F, Jacqueline J. Glascock, Jain AK, Jiang J, Jin J, Kariya S, Kelsey M. Gray, Kevin A. Kaifer, Khush RS, Kim EK, Kim TY, Kirkin V, Kolb SJ, Komander D, Kong L, Korhonen L, Kroiss M, Kushol Gupta, Kwon DY, Le TT, Lee YC, Lefebvre S, Lefebvre S, Li DK, Li XM, Lim KL, Liu C, Liu F, Liu M, Lorson CL, Lorson CL, Lorson CL, Makhortova NR, Marblestone JG, Martin R, Matera AG, McWhorter ML, Meister G, Michael J. Emanuele, Monani UR, Monani UR, Mukhopadhyay D, Murase S, Ning K, Ogino S, Ojeda L, Oprea GE, Oskoui M, O’Hearn PJ, Paquette N, Passini MA, Patton EE, Patton EE, Pearn J, Pellizzoni L, Petroski MD, Pillai RS, Praveen K, Praveen K, Prior TW, Rajendra TK, Ramser J, Rindt H, Rogers SL, Rossoll W, Sanchez G, Sara ten Have, Sareen D, Schmutzler RK, Shafey D, Sharma A, Svendsen CN, Tan JMM, Thomas R. Bonacci, Tiziano FD, Trinkle-Mulcahy L, Valori CF, van Wijk SJL, Voigt T, Walker MP, Wee CD, Wishart TM, Ye Y, Ying Wen, Yukiko Yamashita, Zhang L, Zheng N, Zhou R   +135 more
core   +3 more sources

Exonic Variation and Its Clinical Impact in 7221 Old Order Amish

American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT The Amish of Lancaster County, PA has been the focus of genetic studies for many years due to its demographic history and unique genetic makeup that includes a historical bottleneck event and subsequent genetic drift, resulting in a marked decrease in genetic diversity and increased frequency of some variants that have substantially shaped the
Braxton D. Mitchell, Ebuka Onyenobi, Joshua P. Lewis, Brady Gaynor, James A. Perry, Kristin Maloney, Jeffrey R. O'Connell, Jessica Tiner, Amber L. Beitelshees, Cristopher V. Van Hout, Patrick F. McArdle, Huichun Xu, Erik G. Puffenberger, Karlla W. Brigatti, Melanie Daue, Hilary B. Whitlatch, Anna Alkelai, Alejandro A. Schäffer, John Overton, Elizabeth A. Streeten, Toni I. Pollin, Alan R. Shuldiner   +21 more
wiley   +1 more source

STX4 Is Indispensable for Mitochondrial Homeostasis in Skeletal Muscle

Journal of Cachexia, Sarcopenia and Muscle, Volume 16, Issue 6, December 2025.
ABSTRACT Background Mitochondrial homeostasis is vital for optimal skeletal muscle integrity. Mitochondrial quality control (MQC) mechanisms that are essential for maintaining proper functions of mitochondria include mitochondrial biogenesis, dynamics and mitophagy.
Joseph M. Hoolachan, Rekha Balakrishnan, Erika M. McCown, Karla E. Merz, Chunxue Zhou, Elizabeth Bloom‐Saldana, Patrick T. Fueger, Angelica Hamilton, Tali Kiperman, Ke Ma, Eunjin Oh, Lei Jiang, Patrick Pirrotte, Orian Shirihai, Debbie C. Thurmond   +14 more
wiley   +1 more source

DYNC1H1 in Spinal Muscular Atrophy: Diagnostic Findings From Two Families and a Comprehensive Review of Its Role in Neuromuscular and Neurodevelopmental Disorders

Molecular Genetics &Genomic Medicine, Volume 13, Issue 12, December 2025.
This study expands the understanding of DYNC1H1‐related disorders by identifying rare phenotypes, including scapular winging and camptocormia. It highlights domain‐specific variant clustering, overlapping phenotypes, and emphasizes integrating genetic analyses into clinical workflows to improve diagnosis and understanding of these complex conditions ...
Maryam Namdari, Behnaz Ansari, Keivan Basiri, Elham Sadat Azimi, Majid Hosseinzadeh, Amir Bahreini, Narges Nouri, Maryam Sedghi, Shirin Fattahpur, Mahsa M. Amoli, Homa Tajsharghi   +10 more
wiley   +1 more source

Rare Variants of the SMN1 Gene Detected during Neonatal Screening

Genes
During the expanded neonatal screening program conducted in 2023, we analyzed samples obtained from 1,227,130 out of 1,256,187 newborns in the Russian Federation in order to detect 5q spinal muscular atrophy (5q SMA). Within the 253-sample risk group formed based on the results of the first screening stage, 5 samples showed a discrepancy between the ...
Maria Akhkiamova, Aleksander Polyakov, Andrey Marakhonov, Sergey Voronin, Elena Saifullina, Zulfiia Vafina, Kristina Michalchuk, Svetlana Braslavskaya, Alena Chukhrova, Nina Ryadninskaya, Sergey Kutsev, Olga Shchagina   +11 more
openaire   +2 more sources