Developmental and Metabolic Disorder - PMC

Ulrike Mütze, Florian Gleich, Ivo Barić, Mathias Baumgartner, Alberto Burlina, Kimberly A. Chapman, Yin‐Hsiu Chien, Elisenda Cortès‐Saladelafont, Corinne De Laet, Dries Dobbelaere, Francois Eysken, Matthias Gautschi, Rene Santer, Johannes Häberle, Clara Joaquín, Daniela Karall, Martin Lindner, Allan M. Lund, Chris Mühlhausen, Elaine Murphy, Dominique Roland, Angeles Ruiz Gomez, Anastasia Skouma, Sarah C. Grünert, Margreet Wagenmakers, Sven F. Garbade, Stefan Kölker, Nikolas Boy

J Inherit Metab Dis. 2022 Nov 14 : 10.1002/jimd.12572. doi: 10.1002/jimd.12572 [Epub ahead of print]

PMCID:: PMC9874390

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Pre-Weaning Exposure to Maternal High-Fat Diet Is a Critical Developmental Window for Programming the Metabolic System of Offspring in Mice

Hong Yang, Nan Chen, Lei Fan, Xiaojing Lin, Juncheng Liu, Yuehua You, Ying Zhong, Yan Chen, Jibin Li, Xiaoqiu Xiao

Front Endocrinol (Lausanne) 2022; 13: 816107. Published online 2022 Feb 10. doi: 10.3389/fendo.2022.816107

PMCID:: PMC8867064

Article PDF–4.6M

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Kynurenic Acid Acts as a Signaling Molecule Regulating Energy Expenditure and Is Closely Associated With Metabolic Diseases

Delong Zhen, Junjun Liu, Xu Dong Zhang, Zehua Song

Front Endocrinol (Lausanne) 2022; 13: 847611. Published online 2022 Feb 24. doi: 10.3389/fendo.2022.847611

PMCID:: PMC8908966

Article PDF–368K

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Clinical and biochemical footprints of inherited metabolic disorders: X. Metabolic myopathies

Corrado Angelini, Alberto Burlina, Nenad Blau, Carlos R. Ferreira

Mol Genet Metab. Author manuscript; available in PMC 2023 Sep 19.

Published in final edited form as: Mol Genet Metab. 2022 Sep-Oct; 137(1-2): 213–222. Published online 2022 Sep 18. doi: 10.1016/j.ymgme.2022.09.004

PMCID:: PMC10507680

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Can psychiatric childhood disorders be due to inborn errors of metabolism?

A. Simons, F. Eyskens, I. Glazemakers, D. van West

Eur Child Adolesc Psychiatry. 2017; 26(2): 143–154. Published online 2016 Sep 30. doi: 10.1007/s00787-016-0908-4

PMCID:: PMC5306168

Article PDF–439K

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Immunological Impact of Intestinal T Cells on Metabolic Diseases

Haiyan Zhou, Liwen Wang, Feng Liu

Front Immunol. 2021; 12: 639902. Published online 2021 Feb 18. doi: 10.3389/fimmu.2021.639902

Correction in:: Front Immunol. 2021; 12: 682376.

PMCID:: PMC7930072

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Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app

Eva M. M. Hoytema van Konijnenburg, Saskia B. Wortmann, Marina J. Koelewijn, Laura A. Tseng, Roderick Houben, Sylvia Stöckler-Ipsiroglu, Carlos R. Ferreira, Clara D. M. van Karnebeek

Orphanet J Rare Dis. 2021; 16: 170. Published online 2021 Apr 12. doi: 10.1186/s13023-021-01727-2

PMCID:: PMC8042729

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CD24-Siglec Axis Is an Innate Immune Checkpoint against Metaflammation and Metabolic Disorder

Xu Wang, Mingyue Liu, Jifeng Zhang, Nicholas K. Brown, Peng Zhang, Yan Zhang, Heng Liu, Xuexiang Du, Wei Wu, Martin Devenport, Weng Tao, Yang Mao-Draayer, Guo-Yun Chen, Y. Eugene Chen, Pan Zheng, Yang Liu

Cell Metab. Author manuscript; available in PMC 2023 Aug 2.

Published in final edited form as: Cell Metab. 2022 Aug 2; 34(8): 1088–1103.e6. doi: 10.1016/j.cmet.2022.07.005

PMCID:: PMC9393047

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Fufang Zhenzhu Tiaozhi Capsule Prevents Intestinal Inflammation and Barrier Disruption in Mice With Non-Alcoholic Steatohepatitis

Tian Lan, Tonghao Xu, Yanfang Fu, Shuo Jiang, Xiaolin Liang, Ze Yu, Linyu Pan, Xianglu Rong, Jiao Guo

Front Endocrinol (Lausanne) 2022; 13: 864703. Published online 2022 Jun 16. doi: 10.3389/fendo.2022.864703

PMCID:: PMC9243428

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Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review

Carlota Pascoal, Sandra Brasil, Rita Francisco, Dorinda Marques-da-Silva, Agnes Rafalko, Jaak Jaeken, Paula A. Videira, Luísa Barros, Vanessa dos Reis Ferreira

Orphanet J Rare Dis. 2018; 13: 215. Published online 2018 Nov 28. doi: 10.1186/s13023-018-0953-9

PMCID:: PMC6263554

Article PDF–759K

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Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

Patrick Forny, Friederike Hörster, Diana Ballhausen, Anupam Chakrapani, Kimberly A. Chapman, Carlo Dionisi‐Vici, Marjorie Dixon, Sarah C. Grünert, Stephanie Grunewald, Goknur Haliloglu, Michel Hochuli, Tomas Honzik, Daniela Karall, Diego Martinelli, Femke Molema, Jörn Oliver Sass, Sabine Scholl‐Bürgi, Galit Tal, Monique Williams, Martina Huemer, Matthias R. Baumgartner

J Inherit Metab Dis. 2021 May; 44(3): 566–592. Published online 2021 Mar 9. doi: 10.1002/jimd.12370

Correction in:: J Inherit Metab Dis. 2022 Jul; 45(4): 862.

PMCID:: PMC8252715

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Developmental origins of metabolic diseases

Daniel J. Hoffman, Theresa L. Powell, Emily S. Barrett, Daniel B. Hardy

Physiol Rev. 2021 Jul 1; 101(3): 739–795. Published online 2020 Dec 3. doi: 10.1152/physrev.00002.2020

PMCID:: PMC8526339

Article

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Metabolic memory: mechanisms and diseases

Hao Dong, Yuezhang Sun, Lulingxiao Nie, Aimin Cui, Pengfei Zhao, Wai Keung Leung, Qi Wang

Signal Transduct Target Ther. 2024; 9: 38. Published online 2024 Feb 28. doi: 10.1038/s41392-024-01755-x

PMCID:: PMC10899265

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Protein acylation: mechanisms, biological functions and therapeutic targets

Shuang Shang, Jing Liu, Fang Hua

Signal Transduct Target Ther. 2022; 7: 396. Published online 2022 Dec 29. doi: 10.1038/s41392-022-01245-y

PMCID:: PMC9797573

Article PDF–4.4M

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Propionic acidemia as a cause of adult-onset dilated cardiomyopathy

Moniek Riemersma, Mark R Hazebroek, Appolonia T J M Helderman-van den Enden, Gajja S Salomons, Sacha Ferdinandusse, Martijn C G J Brouwers, Liesbeth van der Ploeg, Stephane Heymans, Jan F C Glatz, Arthur van den Wijngaard, Ingrid P C Krapels, Jörgen Bierau, Han G Brunner

Eur J Hum Genet. 2017 Nov; 25(11): 1195–1201. Published online 2017 Aug 30. doi: 10.1038/ejhg.2017.127

PMCID:: PMC5643962

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Biochemical, Genetic and Clinical Diagnostic Approaches to Autism-Associated Inherited Metabolic Disorders

Udara D. Senarathne, Neluwa-Liyanage R. Indika, Aleksandra Jezela-Stanek, Elżbieta Ciara, Richard E. Frye, Cliff Chen, Karolina M. Stepien

Genes (Basel) 2023 Apr; 14(4): 803. Published online 2023 Mar 27. doi: 10.3390/genes14040803

PMCID:: PMC10138025

Article PDF–359K

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RNAs and RNA-Binding Proteins in Immuno-Metabolic Homeostasis and Diseases

Esam S. B. Salem, Andrew D. Vonberg, Vishnupriya J. Borra, Rupinder K. Gill, Takahisa Nakamura

Front Cardiovasc Med. 2019; 6: 106. Published online 2019 Aug 20. doi: 10.3389/fcvm.2019.00106

PMCID:: PMC6710452

Article PDF–1.6M

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New Insights Into the Role of Autophagy in Liver Surgery in the Setting of Metabolic Syndrome and Related Diseases

Ana Isabel Álvarez-Mercado, Carlos Rojano-Alfonso, Marc Micó-Carnero, Albert Caballeria-Casals, Carmen Peralta, Araní Casillas-Ramírez

Front Cell Dev Biol. 2021; 9: 670273. Published online 2021 Jun 1. doi: 10.3389/fcell.2021.670273

PMCID:: PMC8204012

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PMC Images search for Developmental and Metabolic Disorder

Figure 11

Comparison of disorder content distributions for AS regions in various classes of human genes. Series #1 and #2 represent disorder content distribution for whole human gene sequences and AS regions in human genes. Series #3–6 represent disorder content distributions for AS regions in: 3) developmental, 4) neurological, 5) hematological, and 6) metabolic disease classes. The error bars represent one standard deviation or 68.2% confidence interval.

Protein disorder in the human diseasome: unfoldomics of human genetic diseases

BMC Genomics. 2009;10(Suppl 1):S12-S12.
Figure 1Total and active bacteria found in feces of children.

Relative abundance (%) of total bacterial composition (16S-rDNA) (A) and metabolic active bacteria (16S-rRNA) (B) at the phylum level found in the fecal samples of Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS), autistic (AD) and healthy (HC) children.

Fecal Microbiota and Metabolome of Children with Autism and Pervasive Developmental Disorder Not Otherwise Specified

PLoS One. 2013;8(10):e76993.
Fig. 3A two-tiered diagnostic strategy for treatable inborn errors of metabolism in intellectual developmental disorder. Adapted from van Karnebeek et al. Mol Genet Metab 2014;111:428-38.

Metabolic evaluation of children with global developmental delay

Korean J Pediatr. 2015 Apr;58(4):117-122.
Figure 21

Vancomycin regulated developmental disorder, hereditary disorder, and metabolic disease. Red indicates an up-regulation; green indicates a down-regulation. The intensity of green and red colors indicates the degree of down- or up-regulation. Solid arrow indicates direct interaction and dashed arrow indicates indirect interaction.

A SILAC-Based Approach Elicits the Proteomic Responses to Vancomycin-Associated Nephrotoxicity in Human Proximal Tubule Epithelial HK-2 Cells

Molecules. 2016 Feb;21(2):148.