Reviewer's report
Title:Compound heterozygous Mutations elicit Congenital Lactase Deficiency in
a Japanese Infant
Version:2Date:17 December 2014
Reviewer: Richard J Grand
Reviewer's report:
MS: 8939417131516573
Research article
Compound heterozygous Mutations elicit Congenital Lactase Deficiency in a
Japanese Infant
Lena Diekmann, Katrin Pfeiffer and Hassan Y Naim
BMC Gastroenterology (Section: Intestinal disorders)
I have reviewed this MS and find it to be worthy of publication. It describes an
incredibly interesting case of congenital lactase deficiency, and drills down into
the genetic molecular mechanisms that account for its phenotype. The major new
findings are that these mutations are degraded in the ER, and despite having
active sites present the mutations lead to faulty intracellular processing. This is a
beautiful delineation of pathways of protein movement from the ER to the cell
surface, and the changes in that pathway that occur when transport out of the ER
is prevented. The experiments to prove the pathogenesis are impeccably
performed, the data solid, the writing clear, and the conclusions well supported
by the data. The authors are experienced in the cellular mechanisms of lactase
synthesis and processing and have produced a set of fascinating results. This
MS should be published.
Richard J. Grand, MD
Reviewer's report
Title:Compound heterozygous Mutations elicit Congenital Lactase Deficiency in
a Japanese Infant
Version:2Date:17 December 2014
Reviewer: Richard J Grand
Reviewer's report:
MS: 8939417131516573
Research article
Compound heterozygous Mutations elicit Congenital Lactase Deficiency in a
Japanese Infant
Lena Diekmann, Katrin Pfeiffer and Hassan Y Naim
BMC Gastroenterology (Section: Intestinal disorders)
I have reviewed this MS and find it to be worthy of publication. It describes an
incredibly interesting case of congenital lactase deficiency, and drills down into
the genetic molecular mechanisms that account for its phenotype. The major new
findings are that these mutations are degraded in the ER, and despite having
active sites present the mutations lead to faulty intracellular processing. This is a
beautiful delineation of pathways of protein movement from the ER to the cell
surface, and the changes in that pathway that occur when transport out of the ER
is prevented. The experiments to prove the pathogenesis are impeccably
performed, the data solid, the writing clear, and the conclusions well supported
by the data. The authors are experienced in the cellular mechanisms of lactase
synthesis and processing and have produced a set of fascinating results. This
MS should be published.
Richard J. Grand, MD
Please review this paper.
user
Reviewer's report
Title:Compound heterozygous Mutations elicit Congenital Lactase Deficiency in
a Japanese Infant
Version:2Date:17 December 2014
Reviewer: Richard J Grand
Reviewer's report:
MS: 8939417131516573
Research article
Compound heterozygous Mutations elicit Congenital Lactase Deficiency in a
Japanese Infant
Lena Diekmann, Katrin Pfeiffer and Hassan Y Naim
BMC Gastroenterology (Section: Intestinal disorders)
I have reviewed this MS and find it to be worthy of publication. It describes an
incredibly interesting case of congenital lactase deficiency, and drills down into
the genetic molecular mechanisms that account for its phenotype. The major new
findings are that these mutations are degraded in the ER, and despite having
active sites present the mutations lead to faulty intracellular processing. This is a
beautiful delineation of pathways of protein movement from the ER to the cell
surface, and the changes in that pathway that occur when transport out of the ER
is prevented. The experiments to prove the pathogenesis are impeccably
performed, the data solid, the writing clear, and the conclusions well supported
by the data. The authors are experienced in the cellular mechanisms of lactase
synthesis and processing and have produced a set of fascinating results. This
MS should be published.
Richard J. Grand, MD
assistant