keyword
https://read.qxmd.com/read/37988560/ghmyb30-ghmur3-affects-fiber-elongation-and-secondary-wall-thickening-in-cotton
#21
JOURNAL ARTICLE
Aimin Wu, Boying Lian, Pengbo Hao, Xiaokang Fu, Meng Zhang, Jianhua Lu, Liang Ma, Shuxun Yu, Hengling Wei, Hantao Wang
Xyloglucan, an important hemicellulose, plays a crucial role in maintaining cell wall structure and cell elongation. However, the effects of xyloglucan on cotton fiber development are not well understood. GhMUR3 encodes a xyloglucan galactosyltransferase that is essential for xyloglucan synthesis and is highly expressed during fiber elongation. In this study, we report that GhMUR3 participates in cotton fiber development under the regulation of GhMYB30. Overexpression GhMUR3 affects the fiber elongation and cell wall thickening...
November 21, 2023: Plant Journal
https://read.qxmd.com/read/37987477/diagnosing-x-linked-adrenoleukodystrophy-after-implementation-of-newborn-screening-a-reference-laboratory-perspective
#22
JOURNAL ARTICLE
Julia Prinzi, Marzia Pasquali, Judith A Hobert, Rachel Palmquist, Kristen N Wong, Stephanie Francis, Irene De Biase
Adrenoleukodystrophy (ALD) is caused by pathogenic variants in the ABCD1 gene, encoding for the adrenoleukodystrophy protein (ALDP), leading to defective peroxisomal β-oxidation of very long-chain and branched-chain fatty acids (VLCFA). ALD manifests in both sexes with a spectrum of phenotypes, but approximately 35% of affected males develop childhood cerebral adrenoleukodystrophy (CCALD), which is lethal without hematopoietic stem cell transplant performed before symptoms start. Hence, ALD was added to the Recommended Uniform Screening Panel after the successful implementation in New York State (2013-2016)...
November 2, 2023: International Journal of Neonatal Screening
https://read.qxmd.com/read/37975264/trade-offs-between-the-accumulation-of-cuticular-wax-and-jasmonic-acid-mediated-herbivory-resistance-in-maize
#23
JOURNAL ARTICLE
Jiong Liu, Lu Li, Zhilong Xiong, Christelle Am Robert, Baozhu Li, Shan He, Wenjie Chen, Jiasheng Bi, Guanqing Zhai, Siyi Guo, Hui Zhang, Jieping Li, Shutang Zhou, Xi Zhang, Chun-Peng Song
Plants have evolved complex physical and chemical defense systems that allow them to withstand herbivory infestation. Composed of a complex mixture of very-long-chain fatty acids (VLCFAs) and their derivatives, cuticular wax constitutes the first physical line of defense against herbivores. Here, we report the function of Glossy 8 (ZmGL8), which encodes a 3-ketoacyl reductase belonging to the fatty acid elongase complex, in orchestrating wax production and jasmonic acid (JA)-mediated defenses against herbivores in maize (Zea mays)...
November 17, 2023: Journal of Integrative Plant Biology
https://read.qxmd.com/read/37962062/severe-zellweger-spectrum-disorder-due-to-a-novel-missense-variant-in-the-pex13-gene-a-case-report-and-the-literature-review
#24
JOURNAL ARTICLE
Ling Su, Min-Zhi Peng, Xiao-Dan Chen, Shuang Wu, Li Liu
BACKGROUND: Peroxisome biogenesis disorders (PBDs) are caused by variants in PEX genes that impair peroxisome function. Zellweger spectrum disorders (ZSDs) are the most severe and common subtype of PBDs, affecting multiple organ systems due to peroxisomal involvement in various metabolic functions. PEX13 gene variants are rare causes of ZSDs, with only 21 cases reported worldwide and none in China. METHODS: We describe an infant with biochemically and molecularly confirmed ZSDs due to variants in the PEX13 gene, identified by whole exome sequencing and validated by Sanger sequencing...
November 14, 2023: Molecular Genetics & Genomic Medicine
https://read.qxmd.com/read/37940524/molecular-species-profiles-of-plasma-ceramides-in-different-clinical-types-of-x-linked-adrenoleukodystrophy
#25
JOURNAL ARTICLE
Katsuya Morito, Ryota Shimizu, Hanif Ali, Akina Shimada, Tohru Miyazaki, Naoko Takahashi, M Motiur Rahman, Kazuki Tsuji, Nobuyuki Shimozawa, Michiyasu Nakao, Shigeki Sano, Momoyo Azuma, Meera Nanjundan, Kentaro Kogure, Tamotsu Tanaka
X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder associated with peroxisomal dysfunction. Patients with this rare disease accumulate very long-chain fatty acids (VLCFAs) in their bodies because of impairment of peroxisomal VLCFA ?-oxidation. Several clinical types of X-ALD, ranging from mild (axonopathy in the spinal cord) to severe (cerebral demyelination), are known. However, the molecular basis for this phenotypic variability remains largely unknown. In this study, we determined plasma ceramide (CER) profile using liquid chromatography-tandem mass spectrometry...
2023: Journal of Medical Investigation: JMI
https://read.qxmd.com/read/37845577/a-patient-with-x-linked-adrenoleukodystrophy-presenting-with-central-precocious-puberty-a-case-report
#26
JOURNAL ARTICLE
Ting Ting Zhu, Jin Wu, Xiao Mei Sun
X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder caused by the variations in the ATP-binding cassette sub-family D member 1 (ABCD1) gene. This study is the first to report central precocious puberty (CPP) in individuals with X-ALD. A 6-year-old boy exhibited mucocutaneous pigmentation, increased plasma adrenocorticotropic hormone levels, and elevated very long-chain fatty acids (VLCFA). We identified a variant, c.1826A>G (p. Glu609Gly), in exon 8 of the ABCD1 gene in the proband. Additionally, he displayed rapid growth, testicular volume of 5-6 mL, the onset of pubic hair, and pubertal levels of luteinizing hormone (LH), all meeting the diagnostic criteria for CPP...
February 2024: Endocrine
https://read.qxmd.com/read/37816355/very-long-chain-fatty-acids-are-crucial-to-neuronal-polarity-by-providing-sphingolipids-to-lipid-rafts
#27
JOURNAL ARTICLE
Atsuko Honda, Motohiro Nozumi, Yasuyuki Ito, Rie Natsume, Asami Kawasaki, Fubito Nakatsu, Manabu Abe, Haruki Uchino, Natsuki Matsushita, Kazutaka Ikeda, Makoto Arita, Kenji Sakimura, Michihiro Igarashi
Fatty acids have long been considered essential to brain development; however, the involvement of their synthesis in nervous system formation is unclear. We generate mice with knockout of GPSN2, an enzyme for synthesis of very-long-chain fatty acids (VLCFAs) and investigate the effects. Both GPSN2-/- and GPSN2+/- mice show abnormal neuronal networks as a result of impaired neuronal polarity determination. Lipidomics of GPSN2-/- embryos reveal that ceramide synthesis is specifically inhibited depending on FA length; namely, VLCFA-containing ceramide is reduced...
October 2, 2023: Cell Reports
https://read.qxmd.com/read/37769208/arabidopsis-3-ketoacyl-coa-synthase-17-produces-tetracosanoic-acids-required-for-synthesizing-seed-coat-suberin
#28
JOURNAL ARTICLE
Ryeo Jin Kim, Sol Han, Hyeon Jun Kim, Ji Hyun Hur, Mi Chung Suh
Very long-chain fatty acids (VLCFAs) are precursors for the synthesis of membrane lipids, cuticular waxes, suberins, and storage oils in plants. The 3-ketoacyl CoA synthase (KCS) catalyzes the condensation of C2 units from malonyl-CoA to acyl-CoA, the first rate-limiting step in VLCFA synthesis. In this study, we revealed that Arabidopsis KCS17 catalyzes the elongation of C22 to C24 VLCFAs required for synthesizing seed coat suberin. Histochemical analysis of Arabidopsis plants expressing GUS under the control of the KCS17 promoter revealed predominant GUS expression in seed coats, petals, stigma, and developing pollens...
September 28, 2023: Journal of Experimental Botany
https://read.qxmd.com/read/37768124/the-lipid-basis-of-cell-death-and-autophagy
#29
REVIEW
Zhi Lin, Fei Long, Rui Kang, Daniel J Klionsky, Minghua Yang, Daolin Tang
ACSL: acyl-CoA synthetase long chain family; DISC: death-inducing signaling complex; DAMPs: danger/damage-associated molecular patterns; Dtgn: dispersed trans-Golgi network; FAR1: fatty acyl-CoA reductase 1; GPX4: glutathione peroxidase 4; LPCAT3: lysophosphatidylcholine acyltransferase 3; LPS: lipopolysaccharide; MUFAs: monounsaturated fatty acids; MOMP: mitochondrial outer membrane permeabilization; MLKL, mixed lineage kinase domain like pseudokinase; oxPAPC: oxidized 1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphocholine; OxPCs: oxidized phosphatidylcholines; PUFAs: polyunsaturated fatty acids; POR: cytochrome p450 oxidoreductase; PUFAs: polyunsaturated fatty acids; RCD: regulated cell death; RIPK1: receptor interacting serine/threonine kinase 1; SPHK1: sphingosine kinase 1; SOAT1: sterol O-acyltransferase 1; SCP2: sterol carrier protein 2; SFAs: saturated fatty acids; SLC47A1: solute carrier family 47 member 1; SCD: stearoyl-CoA desaturase; VLCFA: very long chain fatty acids...
September 28, 2023: Autophagy
https://read.qxmd.com/read/37759733/abcd1-transporter-deficiency-results-in-altered-cholesterol-homeostasis
#30
JOURNAL ARTICLE
Agnieszka Buda, Sonja Forss-Petter, Rong Hua, Yorrick Jaspers, Mark Lassnig, Petra Waidhofer-Söllner, Stephan Kemp, Peter Kim, Isabelle Weinhofer, Johannes Berger
X-linked adrenoleukodystrophy (X-ALD), the most common peroxisomal disorder, is caused by mutations in the peroxisomal transporter ABCD1, resulting in the accumulation of very long-chain fatty acids (VLCFA). Strongly affected cell types, such as oligodendrocytes, adrenocortical cells and macrophages, exhibit high cholesterol turnover. Here, we investigated how ABCD1 deficiency affects cholesterol metabolism in human X-ALD patient-derived fibroblasts and CNS tissues of Abcd1-deficient mice. Lipidome analyses revealed increased levels of cholesterol esters (CE), containing both saturated VLCFA and mono/polyunsaturated (V)LCFA...
August 31, 2023: Biomolecules
https://read.qxmd.com/read/37701323/interstitial-lung-disease-and-pancreatic-exocrine-insufficiency-in-cadds-phenotypic-expansion-and-literature-review
#31
Oliver Heath, Dinusha Pandithan, James Pitt, Elena Savva, Laura Raiti, Jenny Bracken, Moya Vandeleur, Martin B Delatycki, Joy Yaplito-Lee, Winita Hardikar, Rebecca Halligan
Contiguous ABCD1 / DXS1357E deletion syndrome (CADDS) is a rare deletion syndrome involving two contiguous genes on Xq28, ABCD1 and BCAP31 (formerly known as DXS1357E ). Only nine individuals with this diagnosis have been reported in the medical literature to date. Intragenic loss-of-function variants in BCAP31 cause the deafness, dystonia, and cerebral hypomyelination syndrome (DDCH). Isolated pathogenic intragenic variants in ABCD1 are associated with the most common peroxisomal disorder, X-linked adrenoleukodystrophy (X-ALD), a single transporter deficiency, which in its more severe cerebral form is characterised by childhood-onset neurodegeneration and high levels of very-long-chain fatty acids (VLCFA)...
September 2023: JIMD Reports
https://read.qxmd.com/read/37682587/a-3-ketoacyl-coa-synthase-10-kcs10-homologue-from-alfalfa-enhances-drought-tolerance-by-regulating-cuticular-wax-biosynthesis
#32
JOURNAL ARTICLE
Yafang Wang, Yushi Liu, Xinya Pan, Yiqi Wan, Ziyan Li, Zhiguo Xie, Tianming Hu, Peizhi Yang
Cuticular wax, forming the first line of defense against adverse environmental stresses, comprises very long-chain fatty acids (VLCFAs) and their derivatives. 3-Ketoacyl-CoA synthase (KCS) is a rate-limiting enzyme for VLCFA biosynthesis. In this study, we isolated KCS10 , a KCS gene from alfalfa, and analyzed the effect of gene expression on wax production and drought stress in transgenic plants. MsKCS10 overexpression increased compact platelet-like crystal deposition and promoted primary alcohol biosynthesis through acyl reduction pathways in alfalfa leaves...
September 8, 2023: Journal of Agricultural and Food Chemistry
https://read.qxmd.com/read/37554558/genome-wide-identification-and-expression-analysis-of-3-ketoacyl-coa-synthase-gene-family-in-rice-oryza-sativa-l-under-cadmium-stress
#33
JOURNAL ARTICLE
Lingwei Yang, Junchao Fang, Jingxin Wang, Suozhen Hui, Liang Zhou, Bo Xu, Yujuan Chen, Yuanyuan Zhang, Changkai Lai, Guiai Jiao, Zhonghua Sheng, Xiangjin Wei, Gaoneng Shao, Lihong Xie, Ling Wang, Ying Chen, Fengli Zhao, Shikai Hu, Peisong Hu, Shaoqing Tang
3-Ketoacyl-CoA synthase (KCS) is the key rate-limiting enzyme for the synthesis of very long-chain fatty acids (VLCFAs) in plants, which determines the carbon chain length of VLCFAs. However, a comprehensive study of KCSs in Oryza sativa has not been reported yet. In this study, we identified 22 OsKCS genes in rice, which are unevenly distributed on nine chromosomes. The OsKCS gene family is divided into six subclasses. Many cis -acting elements related to plant growth, light, hormone, and stress response were enriched in the promoters of OsKCS genes...
2023: Frontiers in Plant Science
https://read.qxmd.com/read/37414147/differential-roles-for-acbd4-and-acbd5-in-peroxisome-er-interactions-and-lipid-metabolism
#34
JOURNAL ARTICLE
Joseph L Costello, Janet Koster, Beatriz S C Silva, Harley L Worthy, Tina A Schrader, Christian Hacker, Josiah Passmore, Frans A Kuypers, Hans R Waterham, Michael Schrader
Peroxisomes and the endoplasmic reticulum (ER) are intimately linked subcellular organelles, physically connected at membrane contact sites. As well as collaborating in lipid metabolism, e.g. of very long chain fatty acids (VLCFAs) and plasmalogens, the ER also plays a role in peroxisome biogenesis. Recent work has identified tethering complexes on the ER and peroxisome membranes which connect the organelles. These include membrane contacts formed via interactions between the ER protein VAPB (vesicle-associated membrane protein-associated protein B) and the peroxisomal proteins ACBD4 and ACBD5 (acyl-coenzyme A-binding domain protein)...
July 4, 2023: Journal of Biological Chemistry
https://read.qxmd.com/read/37400800/a-de-novo-heterozygous-variant-in-acox1-gene-cause-mitchell-syndrome-the-first-case-in-china-and-literature-review
#35
JOURNAL ARTICLE
Mengxiao Shen, Qian Chen, Yanyan Gao, Hongyu Yan, Shuo Feng, Xinna Ji, Xue Zhang
BACKGROUND: Mitchell syndrome (MITCH) is a rare autosomal dominant hereditary disorder, characterized by episodic demyelination, sensorimotor polyneuropathy and hearing loss. MITCH is caused by heterozygous mutation in the ACOX1 gene, which encodes straight-chain acyl-CoA oxidase, on chromosome 17q25.1.  Only 5 unrelated patients have been reported so far, and no reports from China. Here, we describe the first MITCH case in a Chinese individual. CASE PRESENTATION: A 7-year-old girl initially presented with diffuse desquamatory rash at age 3...
July 3, 2023: BMC Medical Genomics
https://read.qxmd.com/read/37378696/hsd17b4-methylation-enhances-glucose-dependence-of-bt-474-breast-cancer-cells-and-increases-lapatinib-sensitivity
#36
JOURNAL ARTICLE
Nobuaki Arai, Naoko Hattori, Satoshi Yamashita, Yu-Yu Liu, Takahiro Ebata, Chihiro Takeuchi, Hideyuki Takeshima, Satoshi Fujii, Haruhiko Kondo, Hirofumi Mukai, Toshikazu Ushijima
PURPOSE: HER2-positive breast cancer has a high chance of achieving pathological complete response when HSD17B4, responsible for peroxisomal β-oxidation of very long-chain fatty acids (VLCFA) and estradiol, is methylation-silenced. Here, we aimed to identify the underlying molecular mechanism. METHODS: Using a HER2-positive breast cancer cell line, BT-474, control and knock-out (KO) clones were obtained. Metabolic characteristics were analyzed using a Seahorse Flux analyzer...
June 28, 2023: Breast Cancer Research and Treatment
https://read.qxmd.com/read/37351235/cerebral-x-linked-adrenoleukodystrophy-presenting-as-enlarging-cavum-vergae-cyst-a-case-report
#37
Tien Meng Cheong, Wan Tew Seow, Ronald Ming Ren Tan, Terrence Thomas, Si Min Chiow, Jeanette Goh, Syeda K Qadri, Sharon Yy Low
The cavum vergae cyst (CVC) is an uncommon brain malformation. Most patients with CVC are asymptomatic and do not require neurosurgical intervention. Separately, cerebral X-linked adrenoleukodystrophy (X-ALD) is one of the phenotypes of a genetic peroxisomal disorder that is seldom managed by neurosurgeons. We report an unusual case of cerebral X-ALD presenting as an enlarging CVC in a child, and discuss its nuances in corroboration with the literature. A previously well six-year-old male presented with confusion and fever...
May 2023: Curēus
https://read.qxmd.com/read/37251958/increased-expression-of-elovl7-contributes-to-production-of-inflammatory-cytokines-in-thp-1-cell-derived-m1-like-macrophages
#38
JOURNAL ARTICLE
Yuki Inoue, Tetsuro Kamiya, Hirokazu Hara
The elevation of intracellular very long-chain fatty acids (VLCFAs) augments pro-inflammatory activity of macrophages. VLCFAs are considered to function as regulators in macrophage inflammatory responses; however, the precise mechanism of regulating the production of VLCFAs is unclear. In this study, we focused on elongation of the very‑long‑chain fatty acid protein (ELOVL) family, rate-determining enzymes for VLCFA synthesis, in macrophages. ELOVL7 mRNA was upregulated in human monocytic THP-1 cell-derived M1-like macrophages...
May 2023: Journal of Clinical Biochemistry and Nutrition
https://read.qxmd.com/read/37247130/a-very-long-chain-fatty-acid-responsive-transcription-factor-myb93-regulates-lateral-root-development-in-arabidopsis
#39
JOURNAL ARTICLE
Yuta Uemura, Saori Kimura, Tomomichi Ohta, Takamasa Suzuki, Kosuke Mase, Hiroyuki Kato, Satomi Sakaoka, Masayoshi Uefune, Yuki Komine, Kazuhiro Hotta, Motoyuki Shimizu, Atsushi Morikami, Hironaka Tsukagoshi
Lateral roots (LRs) are critical to root system architecture development in plants. Although the molecular mechanisms by which auxin regulates LR development have been extensively studied, several additional regulatory systems are hypothesized to be involved. Recently, the regulatory role of very long chain fatty acids (VLCFAs) has been shown in LR development. Our analysis showed that LTPG1 and LTPG2, transporters of VLCFAs, are specifically expressed in the developing LR primordium (LRP), while the number of LRs is reduced in the ltpg1/ltpg2 double mutant...
May 29, 2023: Plant Journal
https://read.qxmd.com/read/37247117/initial-frontal-lobe-involvement-in-adult-cerebral-x-linked-adrenoleukodystrophy
#40
JOURNAL ARTICLE
Wei Jiang, Wei Jin, Hulin Zhao, Dehui Huang, Lei Wu
OBJECTIVE: Adult cerebral X-linked adrenoleukodystrophy (ACALD) with initial frontal lobe involvement is a rare genetic disease that is easily misdiagnosed and underdiagnosed. We sought to improve the early identification of such diseases. METHODS: We present three cases of adult X-linked adrenoleukodystrophy (ALD) with initial frontal lobe involvement and identify an additional 13 cases from the database. The clinical and imaging characteristics of the overall sixteen cases were analyzed...
May 29, 2023: Acta Neurologica Belgica
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