Novel Variant in C19orf12 Gene Causing Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN) – Case Report and a Brief Review of Indian Literature on MPAN

Novel Variant in C19orf12 Gene Causing Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN) – Case Report and a Brief Review of Indian Literature on MPAN

Saved in:

Bibliographic Details
Main Authors:	Jayaram Saibaba, Sandeep Sibi, Deepak Amalnath, Dharanipragada Krishna Suri Subrahmanyam
Format:	Article
Language:	English
Published:	Wolters Kluwer Medknow Publications 2025-05-01
Series:	Annals of Indian Academy of Neurology
Online Access:	https://journals.lww.com/10.4103/aian.aian_939_24
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Impairment of Drosophila orthologs of the human orphan protein C19orf12 induces bang sensitivity and neurodegeneration.
by: Arcangela Iuso, et al.
Published: (2014-01-01)

Acute pancreatitis presenting with polyarthritis
by: Shahanaze Javath Hussain, et al.
Published: (2018-01-01)

Mitochondrial HSF1 triggers mitochondrial dysfunction and neurodegeneration in Huntington's disease
by: Chunyue Liu, et al.
Published: (2022-06-01)

The Role of Autophagy in Excitotoxicity, Synaptic Mitochondrial Stress and Neurodegeneration
by: Charleen T. Chu
Published: (2025-12-01)

C9orf72 deficiency impairs the autophagic response to aggregated TDP-25 and exacerbates TDP-25-mediated neurodegeneration in vivo
by: Lilian Tsai-Wei Lin, et al.
Published: (2025-06-01)

Melatonin and mitochondrial stress: New insights into age-related neurodegeneration
by: Silvia Carloni, et al.
Published: (2026-04-01)

Editorial: Recent advances in mitochondrial dysfunction and therapeutics for neurodegeneration and aging
by: Monokesh K. Sen, et al.
Published: (2025-07-01)

VDAC1: A Key Player in the Mitochondrial Landscape of Neurodegeneration
by: Shirel Argueti-Ostrovsky, et al.
Published: (2024-12-01)

A Brief Introduction to Indian Psychology
by: Манила Сирисети, et al.
Published: (2025-03-01)

C19orf12 inhibits mitochondrial function and enhances the antitumor effects of metformin in non-small cell lung cancer
by: Ran Liu, et al.
Published: (2025-09-01)

Amyloid‐β in mitochondrial disease: mutation in a human metallopeptidase links amyloidotic neurodegeneration with mitochondrial processing
by: Veronika Boczonadi, et al.
Published: (2016-01-01)

Nódulo de orf
by: P. López Sanz, et al.
Published: (2025-05-01)

Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration
by: Dario Brunetti, et al.
Published: (2015-12-01)

Impacts of mitochondrial dysfunction on axonal microtubule bundles as a potential mechanism of neurodegeneration
by: Scott Murray-Cors, et al.
Published: (2025-08-01)

The 256 kb mitochondrial genome of Clavaria fumosa is the largest among phylum Basidiomycota and is rich in introns and intronic ORFs
by: Xu Wang, et al.
Published: (2020-11-01)

The mitochondrial protein ORF463a mediates NWB cytoplasmic male sterility in radish through its interaction with a subunit of mitochondrial complex V
by: Yanping Wang, et al.
Published: (2025-06-01)

Mitochondria-targeted nanovesicles for ursodeoxycholic acid delivery to combat neurodegeneration by ameliorating mitochondrial dysfunction
by: Shizheng Zhang, et al.
Published: (2025-03-01)

Hardy-Weinberg Equilibrium in different mitochondrial haplogroups of four genes associated with neuroprotection and neurodegeneration
by: Sheida MEHRPOUR, et al.

Fueling neurodegeneration: metabolic insights into microglia functions
by: Mohammadamin Sadeghdoust, et al.
Published: (2024-11-01)

A brief introduction to the history of mitochondrial research in Japan
by: Yasutoshi Koga, et al.
Published: (2023-01-01)

Caloric Restriction and the Nutrient-Sensing PGC-1α in Mitochondrial Homeostasis: New Perspectives in Neurodegeneration
by: Daniele Lettieri Barbato, et al.
Published: (2012-01-01)

[Translated article] Orf Virus Nodule
by: P. López Sanz, et al.
Published: (2025-05-01)

The whole genome analysis of the wild-type and attenuated orf virus reveals that ORF022 facilitates viral replication
by: Tian Jing, et al.
Published: (2025-05-01)

Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease
by: Lindsey Van Haute, et al.
Published: (2024-11-01)

Protective Role of AMPK against PINK1B9 Flies’ Neurodegeneration with Improved Mitochondrial Function
by: Guoliang Xiang, et al.
Published: (2023-01-01)

An Indian Case Study on Mitochondrial Neurogastrointestinal Encephalomyopathy
by: Shabana Kareem, et al.
Published: (2024-05-01)

Orf (contagious ecthyma) transmitted by a cat
by: Victoire Laumondais, et al.
Published: (2024-12-01)

Genomic ncRNAs regulating mitochondrial function in neurodegeneration: a neglected clue in the complex etiopathogenesis of multiple sclerosis
by: Nima Sanadgol, et al.
Published: (2025-06-01)

Kaempferol enhances ER-mitochondria coupling and protects motor neurons from mitochondrial dysfunction and ER stress in C9ORF72-ALS
by: Federica Pilotto, et al.
Published: (2025-02-01)

Different germline variants in the XPA gene are associated with severe, intermediate, or mild neurodegeneration in xeroderma pigmentosum patients.
by: Jeffrey P Sagun, et al.
Published: (2024-12-01)

First identification of ORF virus causing contagious ecthyma in Morocco (MOR20): Genomic, phylogenetic, and sequence variants analyses for vaccine design.
by: Zouhair Elkarhat, et al.
Published: (2025-01-01)

Oxidative Stress in Neurodegeneration
by: Varsha Shukla, et al.
Published: (2011-01-01)

Neurodegeneration: 2024 update
by: John F. Crary
Published: (2024-12-01)

Intercellular adhesion molecules as novel markers of endothelial function in patients with diabetes mellitus in the South Indian population
by: J. Ashwini Kumari, et al.
Published: (2024-10-01)

Optineurin overexpression ameliorates neurodegeneration through regulating neuroinflammation and mitochondrial quality in a murine model of amyotrophic lateral sclerosis
by: Shumin Zhao, et al.
Published: (2025-02-01)

Mitochondrial membrane protein-associated neurodegeneration presenting with pure motor neuropathy: A rare case report and review of the literature
by: Vikas Lakhanpal, et al.
Published: (2024-05-01)

Brief Communication; Letter to editor
by: MS Gupta Sandeep (Lt Col)
Published: (2012-07-01)

Tissue-specific mitochondrial DNA, MT-TF, pathogenic variants in mitochondrial myopathies
by: Sylvia Rose, et al.
Published: (2025-06-01)

A Brief Overview of Open Educational Resources Accessible in Indian Digital Learning Repositories
by: Abhijit Chakrabarti, et al.
Published: (2025-08-01)

Heteroplasmic mitochondrial DNA variants in cardiovascular diseases.
by: Claudia Calabrese, et al.
Published: (2022-04-01)