Bellen Lab

Ameya Walimbe

Ameya Walimbe

MD., PhD., University of Iowa, Iowa City, IA
M.S.E, University of Michigan, Ann Arbor, MI
B.S., University of Michigan, Ann Arbor, MI

Research Interests

I am a physician-scientist and child neurologist with a strong interest in neurogenetic and neuromuscular disorders. In the Bellen lab, I study how pathogenic variants in the mitochondrial enzyme Lipoyltransferase 1 (LIPT1) lead to defects in neuronal energy production and neurodegeneration. I use Drosophila and dermal fibroblasts from patients with LIPT1 deficiency to study the pathogenesis of this disorder and screen for therapeutic compounds. Using similar approaches, I am also studying how pathogenic variants in several genes associated with Leigh syndrome increase mitochondrial reactive oxygen species (ROS) and developing new methods to detect and treat elevated ROS in this condition.

Publications

Walimbe AS, Waskow E, Mackay L, Miller M, Gijavanekar C, Difalco CR, Elsea SH, Scaglia F.  (2025) Expanded Clinical Phenotype and the Role of Untargeted Metabolomics Analysis in Confirming the Diagnosis of Sodium-Dependent Multivitamin Transporter Deficiency. Am J Med Genet A :e64014.  [Abstract]
Barak G, Demmler-Harrison G, Rossetti L, Tubman VN, Walimbe AS, Asaithambi R (2024) Progressive Thrombocytopenia, Splenomegaly, and Abnormal Tone in an Infant With Growth Faltering. Pediatrics 154(1):e2023064048.  [Abstract]
Walimbe AS, Machol K, Kralik SF, Mizerik EA, Gofin Y, Bekheirnia MR, Gijavanekar C, Elsea SH, Emrick LT, Scaglia F (2024) Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report. BMC Neurol 24(1):87.  [Abstract]
Yang T, Chandel I, Gonzales M, Okuma H, Prouty SJ, Zarei S, Joseph S, Garringer KW, Landa SO, Yonekawa T, Walimbe AS, Venzke DP, Anderson ME, Hord JM, Campbell KP (2023) Identification of a short, single site matriglycan that maintains neuromuscular function in the mouse. bioRxiv :2023.12.20.572361.  [Abstract]
Okuma H, Hord JM, Chandel I, Venzke D, Anderson ME, Walimbe AS, Joseph S, Gastel Z, Hara Y, Saito F, Matsumura K, Campbell KP (2023) N-terminal domain on dystroglycan enables LARGE1 to extend matriglycan on alpha-dystroglycan and prevents muscular dystrophy. eLife :e82811.  [Abstract]
Walimbe AS, Okuma H, Joseph S, Yang T, Yonekawa T, Hord JM, Venzke D, Anderson ME, Torelli S, Manzur A, Devereaux M, Cuellar M, Prouty S, Ocampo Landa S, Yu L, Xiao J, Dixon JE, Muntoni F, Campbell KP (2020) POMK regulates dystroglycan function via LARGE1-mediated elongation of matriglycan. eLife :e61388.  [Abstract]
Zhu Q, Venzke D, Walimbe AS, Anderson ME, Fu Q, Kinch LN, Wang W, Chen X, Grishin NV, Huang N, Yu L, Dixon JE, Campbell KP, Xiao J (2016) Structure of protein O-mannose kinase reveals a unique active site architecture. eLife :e22238.  [Abstract]
Last Modified 12-04-2023

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