MYRF: A Mysterious Membrane-Bound Transcription Factor Involved in Myelin Development and Human Diseases

Huang, Hao; Zhou, Fang; Zhou, Shiying; Qiu, Mengsheng

doi:10.1007/s12264-021-00678-9

Cited by 15 publications

(9 citation statements)

References 21 publications

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“…In some of these patients with heterozygous loss of function, variants in MYRF were also observed as structural abnormalities in various organs, mainly the heart, lung, diaphragm, and genitals (Kurahashi et al, 2018). Since MYRF is also expressed in the retinal pigment epithelium, some variants in the MYRF gene are associated with ocular disorders such as nanophthalmos (Huang et al, 2021).…”

Section: Discussionmentioning

confidence: 99%

Two sisters with cardiac‐urogenital syndrome secondary to pathogenic splicing variant in the MYRF gene with unaffected parents: A case of gonadal mosaicism?

Slabá

Ježová

Pokorná

et al. 2023

Molec Gen & Gen Med

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Section: Discussionmentioning

confidence: 99%

Two sisters with cardiac‐urogenital syndrome secondary to pathogenic splicing variant in the MYRF gene with unaffected parents: A case of gonadal mosaicism?

Slabá

Ježová

Pokorná

et al. 2023

Molec Gen & Gen Med

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“…The significance of integrity in the ICA is further demonstrated by human mutations in this domain resulting in congenital anomalies. [39,69] In the pre-cleavage MYRF molecule, at its N-terminus the ICA is connected with a triangular prism with a β-helical stalk built by 4-6 interacted parallel β-strands from three subunits. [68] It's important to note that this triple-β-helix is not a typical one, as the β strands from the three subunits are only partially intertwined.…”

Section: Intramolecular Chaperone Domain Of Myrf Catalyzes Self-cleav...mentioning

confidence: 99%

“…Heterozygous pathogenic variants in MYRF give rise to a developmental disorder referred to as MYRF ‐related cardiac urogenital syndrome ( MYRF ‐CUGS) or “ MYRF ‐related ocular cardiac urogenital syndrome.” [ 9 ] Currently, approximately 50 individuals with MYRF ‐CUGS have been identified as having a pathogenic variant in MYRF and the majority of variants are de novo (Figure 3). [ 9,39,40 ] This syndrome primarily manifests with anomalies in internal and external genitalia, congenital heart defects, and eye conditions. [ 7,34–36,41,42 ] Additionally, it presents with a wide spectrum of developmental delay and intellectual disability, pulmonary abnormalities, diaphragmatic issues, and intestinal malrotation.…”

Section: Myrf Is Essential For Animal Developmentmentioning

confidence: 99%

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MYRF: A unique transmembrane transcription factor‐ from proteolytic self‐processing to its multifaceted roles in animal development

Qi,

Xu,

Shen

et al. 2024

BioEssays

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The Myelin Regulator Factor (MYRF) is a master regulator governing myelin formation and maintenance in the central nervous system. The conservation of MYRF across metazoans and its broad tissue expression suggest it has functions extending beyond the well‐established role in myelination. Loss of MYRF results in developmental lethality in both invertebrates and vertebrates, and MYRF haploinsufficiency in humans causes MYRF‐related Cardiac Urogenital Syndrome, underscoring its importance in animal development; however, these mechanisms are largely unexplored. MYRF, an unconventional transcription factor, begins embedded in the membrane and undergoes intramolecular chaperone mediated trimerization, which triggers self‐cleavage, allowing its N‐terminal segment with an Ig‐fold DNA‐binding domain to enter the nucleus for transcriptional regulation. Recent research suggests developmental regulation of cleavage, yet the mechanisms remain enigmatic. While some parts of MYRF's structure have been elucidated, others remain obscure, leaving questions about how these motifs are linked to its intricate processing and function.

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“…The next TF was MYRFL (myelin regulatory factor-like protein). Its biological function (and that of some other myelin regulatory factors, such as MYRF) is poorly understood, which is surprising given the importance of myelin for neuronal health (Huang et al, 2021).…”

Section: Data Referencesmentioning

confidence: 99%

Breakdown and repair of the aging brain metabolic system

Shichkova,

Coggan,

Kanari

et al. 2023

Preprint

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Cognitive impairments and neurodegeneration in aging are linked to disrupted brain energy metabolism. We address this experimentally challenging problem with a computational molecular model that provides mechanistic insights and therapeutic predictions. This model encompasses key enzymes, transporters, metabolites, and other important factors, enabling the investigation of over 66,000 molecular interactions within and across cellular and subcellular compartments of neurons, glia, and blood vessels. During aging, action potential generation is primarily impaired due to reduced expression of the Na+/K+-ATPase pump and diminished ATP supply. The metabolic system loses flexibility, hindering its ability to effectively respond to stimuli or adapt to molecular damage. Astrocytes may defer to neuronal energy stability at their own expense. We identified potential strategies for rejuvenating the aged brain including supplying nutritional factors to the blood, increasing the NADH cytosol-mitochondria shuttle capacity and the expression of Na+/K+-ATPase. Transcription factor analysis implicated the estrogen related receptor alpha (ESRRA) as having the highest potential impact on aging, suggesting that dysregulated energy metabolism may be a transitional state between healthy aging and neurodegenerative disorders, rather than a hallmark of aging. This high-fidelity model serves as a foundation for future research on aging and cognitive health.

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MYRF: A Mysterious Membrane-Bound Transcription Factor Involved in Myelin Development and Human Diseases

Cited by 15 publications

References 21 publications

Two sisters with cardiac‐urogenital syndrome secondary to pathogenic splicing variant in the MYRF gene with unaffected parents: A case of gonadal mosaicism?

Two sisters with cardiac‐urogenital syndrome secondary to pathogenic splicing variant in the MYRF gene with unaffected parents: A case of gonadal mosaicism?

MYRF: A unique transmembrane transcription factor‐ from proteolytic self‐processing to its multifaceted roles in animal development

Breakdown and repair of the aging brain metabolic system

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