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Autosomal Dominant MPAN : Mosaicism Expands the Clinical Spectrum to Atypical Late‐Onset Phenotypes

• Authors : Angelini, Chloé; Durand, Christelle Marie; Fergelot, Patricia ...

Subjects: mosaicism; C19orf12; NBIA

• Source: ISSN: 0885-3185.

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The importance of genome sequencing: unraveling SSBP1 variant missed by exome sequencing

• Authors : Jae Won Jun; Yuri Seo; Sueng-Han Han

Subjects: Adult; Child; Preschool

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Not4-dependent targeting of MMF1 mRNA to mitochondria limits its expression via ribosome pausing, Egd1 ubiquitination, Caf130, no-go-decay and autophagy

• Authors : Chen, Siyu; Allen, George Edward; Panasenko, Olesya

Subjects: info:eu-repo/classification/ddc/616; info:eu-repo/classification/ddc/590; Autophagy / genetics

• Source: ISSN: 0305-1048 ; Nucleic acids research, vol. 51, no. 10 (2023) p. 5022-5039.

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Structural insights into the role of GTPBP10 in the RNA maturation of the mitoribosome

• Authors : Nguyen, Thu Giang; Ritter, Christina; Kummer, Eva

Subjects: Mitochondrial Ribosomes/metabolism; RNA/metabolism; Mitochondrial Proteins/genetics

• Source: Nguyen , T G , Ritter , C & Kummer , E 2023 , ' Structural insights into the role of GTPBP10 in the RNA maturation of the mitoribosome ' , Nature Communications , vol. 14 , 7991 .

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AMPK-dependent phosphorylation of MTFR1L regulates mitochondrial morphology

• Authors : Tilokani, Lisa; Russell, Fiona M.; Hamilton, Stevie

Subjects: Animals; Mice; Phosphorylation

• Source: Tilokani , L , Russell , F M , Hamilton , S , Virga , D M , Segawa , M , Paupe , V , Gruszczyk , A V , Protasoni , M , Tabara , L-C , Johnson , M , Anand , H , Murphy , M P , Hardie , D G , Polleux ,

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Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease.

• Authors : Cordts, Isabell; Semmler, Luisa; Lingor, Paul

Subjects: info:eu-repo/classification/ddc/610; Ataxia: genetics; Cerebellar Ataxia: geneticsDE

• Source: Movement disorders 37(10), 2147-2153 (2022). doi:10.1002/mds.29167

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Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases.

• Authors : Kolarova, Hana; Tan, Jing; Strom, Tim M

Subjects: info:eu-repo/classification/ddc/610; Brain: pathology; Calcium-Binding ProteinsDE

• Source: EBioMedicine 77, 103869 (2022). doi:10.1016/j.ebiom.2022.103869

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Quantitative proteomic and functional analysis of liver mitochondria from high fat diet (HFD) diabetic mice.

• Authors : Guo, Yurong; Darshi, Manjula; Ma, Yuliang

Subjects: Adenosine Triphosphate: metabolism; Animals; Citric Acid Cycle: genetics

• Source: Molecular & cellular proteomics : MCP. 12(12)

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Prioritizing Genetic Contributors to Cortical Alterations in 22q11.2 Deletion Syndrome Using Imaging Transcriptomics

• Authors : Gudbrandsen, Maria

Subjects: 22q11 Deletion Syndrome/diagnostic imaging; Brain Cortical Thickness; Case-Control Studies

• Source: 22q11.2 ENIGMA Consortium & Gudbrandsen , M 2021 , ' Prioritizing Genetic Contributors to Cortical Alterations in 22q11.2 Deletion Syndrome Using Imaging Transcriptomics ' , Cerebral Cortex , vol. 31

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Impact of Mitochondrial Genetic Variants in ND1, ND2, ND5, and ND6 Genes on Sperm Motility and Intracytoplasmic Sperm Injection (ICSI) Outcomes

• Authors : Alsmadi, Mohammad; Hammadeh, Mohamad Eid; Solomayer, Erich

Subjects: Asthenozoospermia; Reproductive Genetics: Original Article; DNA

• Source: http://lobid.org/resources/99370670578106441#!, 28(5):1540-1555.

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